@prefix biocontext: <https://bioregistry.io/metaregistry/biocontext/> .
@prefix biolink.resource: <https://bioregistry.io/metaregistry/biolink.resource/resolve/> .
@prefix bioregistry: <https://bioregistry.io/registry/> .
@prefix bioregistry.schema: <https://bioregistry.io/schema/#> .
@prefix cellosaurus.resource: <https://bioregistry.io/metaregistry/cellosaurus/> .
@prefix dcat: <http://www.w3.org/ns/dcat#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix doap: <http://usefulinc.com/ns/doap#> .
@prefix fairsharing: <https://fairsharing.org/> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix hl7: <https://oid-base.com/get/2.16.840.1.113883.> .
@prefix integbio: <https://catalog.integbio.jp/dbcatalog/en/record/> .
@prefix miriam: <https://registry.identifiers.org/registry/> .
@prefix n2t: <https://n2t.net/.info/> .
@prefix orcid: <https://orcid.org/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix re3data: <https://www.re3data.org/repository/> .
@prefix ror: <https://ror.org/> .
@prefix sh: <http://www.w3.org/ns/shacl#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix togoid: <https://togoid.dbcls.jp/ontology#> .
@prefix wikidata: <http://www.wikidata.org/entity/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

bioregistry:biocontext dcterms:hasPart biocontext:ClinVarVariant .

bioregistry:biolink.resource dcterms:hasPart biolink.resource:CLINVAR .

bioregistry:bioregistry dcterms:hasPart bioregistry:clinvar.variation .

bioregistry:cellosaurus.resource dcterms:hasPart cellosaurus.resource:ClinVar .

bioregistry:clinvar.variation a sh:PrefixDeclaration,
        bioregistry.schema:0000001 ;
    rdfs:label "ClinVar Variation" ;
    dcterms:description "ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Variant identifier."^^xsd:string ;
    dcterms:isPartOf bioregistry:bioregistry ;
    doap:maintainer orcid:0000-0001-7451-4467 ;
    skos:exactMatch wikidata:P1929,
        biocontext:ClinVarVariant,
        biolink.resource:CLINVAR,
        cellosaurus.resource:ClinVar,
        integbio:nbdc01514,
        fairsharing:FAIRsharing.wx5r6f,
        n2t:clinvar,
        hl7:6.319,
        miriam:clinvar,
        togoid:Clinvar,
        re3data:r3d100013331 ;
    dcat:keyword "bibliography/documents",
        "biomedical science",
        "clinical studies",
        "disease",
        "genetic polymorphism",
        "genetic variation",
        "genome/gene",
        "genomics",
        "health/disease",
        "phenotype",
        "preclinical studies",
        "repository",
        "variant" ;
    sh:namespace "https://www.ncbi.nlm.nih.gov/clinvar/variation/"^^xsd:anyURI ;
    sh:prefix "clinvar.variation" ;
    foaf:homepage "http://www.ncbi.nlm.nih.gov/clinvar/"^^xsd:anyURI ;
    bioregistry.schema:0000005 "12345"^^xsd:string ;
    bioregistry.schema:0000006 "https://www.ncbi.nlm.nih.gov/clinvar/variation/$1"^^xsd:string ;
    bioregistry.schema:0000008 "^\\d+$"^^xsd:string ;
    bioregistry.schema:0000012 false ;
    bioregistry.schema:0000023 "clinvar",
        "clinvar.variant" ;
    bioregistry.schema:0000026 ror:02meqm098 ;
    bioregistry.schema:0000027 <https://www.ncbi.nlm.nih.gov/clinvar/variation/12345> .

bioregistry:fairsharing dcterms:hasPart fairsharing:FAIRsharing.wx5r6f .

bioregistry:hl7 dcterms:hasPart hl7:6.319 .

bioregistry:integbio dcterms:hasPart integbio:nbdc01514 .

bioregistry:miriam dcterms:hasPart miriam:clinvar .

bioregistry:n2t dcterms:hasPart n2t:clinvar .

bioregistry:re3data dcterms:hasPart re3data:r3d100013331 .

bioregistry:togoid dcterms:hasPart togoid:Clinvar .

bioregistry:wikidata.property dcterms:hasPart wikidata:P1929 .

orcid:0000-0001-7451-4467 rdfs:label "Donna R. Maglott" ;
    foaf:mbox "maglott@ncbi.nlm.nih.gov" .

ror:02meqm098 a foaf:Organization ;
    rdfs:label "National Center for Biotechnology Information" .

wikidata:P1929 dcterms:isPartOf bioregistry:wikidata.property .

biocontext:ClinVarVariant dcterms:isPartOf bioregistry:biocontext .

biolink.resource:CLINVAR dcterms:isPartOf bioregistry:biolink.resource .

cellosaurus.resource:ClinVar dcterms:isPartOf bioregistry:cellosaurus.resource .

integbio:nbdc01514 dcterms:isPartOf bioregistry:integbio .

fairsharing:FAIRsharing.wx5r6f dcterms:isPartOf bioregistry:fairsharing .

n2t:clinvar dcterms:isPartOf bioregistry:n2t .

hl7:6.319 dcterms:isPartOf bioregistry:hl7 .

miriam:clinvar dcterms:isPartOf bioregistry:miriam .

togoid:Clinvar dcterms:isPartOf bioregistry:togoid .

re3data:r3d100013331 dcterms:isPartOf bioregistry:re3data .

