@prefix biocontext: . @prefix biolink: . @prefix bioregistry: . @prefix bioregistry.metaresource: . @prefix bioregistry.schema: . @prefix cellosaurus.resource: . @prefix dcat: . @prefix dcterms: . @prefix fairsharing: . @prefix foaf: . @prefix integbio: . @prefix miriam: . @prefix n2t: . @prefix oid: . @prefix rdfs: . @prefix re3data: . @prefix skos: . @prefix togoid: . @prefix wikidata: . @prefix xsd: . bioregistry.metaresource:biocontext dcterms:hasPart biocontext:ClinVarVariant . bioregistry.metaresource:biolink dcterms:hasPart biolink:CLINVAR . bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:clinvar . bioregistry.metaresource:cellosaurus dcterms:hasPart cellosaurus.resource:ClinVar . bioregistry.metaresource:fairsharing dcterms:hasPart fairsharing:FAIRsharing.wx5r6f . bioregistry.metaresource:hl7 dcterms:hasPart oid:2.16.840.1.113883.6.319 . bioregistry.metaresource:integbio dcterms:hasPart integbio:nbdc01514 . bioregistry.metaresource:miriam dcterms:hasPart miriam:clinvar . bioregistry.metaresource:n2t dcterms:hasPart n2t:clinvar . bioregistry.metaresource:re3data dcterms:hasPart re3data:r3d100013331 . bioregistry.metaresource:togoid dcterms:hasPart togoid:Clinvar . bioregistry.metaresource:wikidata dcterms:hasPart wikidata:P1929 . bioregistry:clinvar a 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.metaresource:bioregistry ; skos:exactMatch oid:2.16.840.1.113883.6.319, wikidata:P1929, biocontext:ClinVarVariant, biolink:CLINVAR, cellosaurus.resource:ClinVar, n2t:clinvar, fairsharing:FAIRsharing.wx5r6f, integbio:nbdc01514, miriam:clinvar, togoid:Clinvar, re3data:r3d100013331 ; dcat:keyword "biomedical science", "clinical studies", "genomics", "preclinical studies" ; foaf:homepage ; 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.variant", "clinvar.variation" ; bioregistry.schema:0000024 "https://www.ncbi.nlm.nih.gov/clinvar/variation/"^^xsd:string ; bioregistry.schema:0000027 ; bioregistry.schema:0000029 "clinvar" . oid:2.16.840.1.113883.6.319 dcterms:isPartOf bioregistry.metaresource:hl7 . wikidata:P1929 dcterms:isPartOf bioregistry.metaresource:wikidata . biocontext:ClinVarVariant dcterms:isPartOf bioregistry.metaresource:biocontext . biolink:CLINVAR dcterms:isPartOf bioregistry.metaresource:biolink . cellosaurus.resource:ClinVar dcterms:isPartOf bioregistry.metaresource:cellosaurus . n2t:clinvar dcterms:isPartOf bioregistry.metaresource:n2t . fairsharing:FAIRsharing.wx5r6f dcterms:isPartOf bioregistry.metaresource:fairsharing . integbio:nbdc01514 dcterms:isPartOf bioregistry.metaresource:integbio . miriam:clinvar dcterms:isPartOf bioregistry.metaresource:miriam . togoid:Clinvar dcterms:isPartOf bioregistry.metaresource:togoid . re3data:r3d100013331 dcterms:isPartOf bioregistry.metaresource:re3data .