@prefix biocontext: . @prefix bioregistry: . @prefix bioregistry.metaresource: . @prefix bioregistry.schema: . @prefix dcterms: . @prefix foaf: . @prefix miriam: . @prefix n2t: . @prefix rdfs: . @prefix skos: . @prefix xsd: . bioregistry.metaresource:biocontext dcterms:hasPart biocontext:CLINVAR.RECORD . bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:clinvar.record . bioregistry.metaresource:miriam dcterms:hasPart miriam:clinvar.record . bioregistry.metaresource:n2t dcterms:hasPart n2t:clinvar.record . bioregistry:clinvar dcterms:hasPart bioregistry:clinvar.record . biocontext:CLINVAR.RECORD dcterms:isPartOf bioregistry.metaresource:biocontext . n2t:clinvar.record dcterms:isPartOf bioregistry.metaresource:n2t . bioregistry:clinvar.record a bioregistry.schema:0000001 ; rdfs:label "ClinVar Record" ; 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 Record Report, based on RCV accession."^^xsd:string ; dcterms:isPartOf bioregistry.metaresource:bioregistry, bioregistry:clinvar ; skos:exactMatch biocontext:CLINVAR.RECORD, n2t:clinvar.record, miriam:clinvar.record ; foaf:homepage ; bioregistry.schema:0000005 "RCV000033555.3"^^xsd:string ; bioregistry.schema:0000006 "http://www.ncbi.nlm.nih.gov/clinvar/$1"^^xsd:string ; bioregistry.schema:0000008 "^RCV\\d+(\\.\\d+)?$"^^xsd:string ; bioregistry.schema:0000012 false ; bioregistry.schema:0000024 "http://www.ncbi.nlm.nih.gov/clinvar/"^^xsd:string ; bioregistry.schema:0000027 ; bioregistry.schema:0000029 "clinvar.record" . miriam:clinvar.record dcterms:isPartOf bioregistry.metaresource:miriam .