ClinVar Variation
type: https://bioregistry.io/schema/#0000001
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.
is part of: bioregistry
keyword: bibliography/documents
keyword: genetic variation
keyword: genome/gene
keyword: health/disease
keyword: phenotype
keyword: repository
keyword: variant
0000005: 12345
0000006: https://www.ncbi.nlm.nih.gov/clinvar/variation/$1
0000008: ^\d+$
0000012: false
0000019: Donna R. Maglott
0000023: clinvar
0000023: clinvar.variant
0000024: https://www.ncbi.nlm.nih.gov/clinvar/variation/
0000026: 02meqm098
0000027: https://www.ncbi.nlm.nih.gov/clinvar/variation/12345
0000029: clinvar.variation