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.

Prefix
clinvar
Links
Homepage
Contact
Missing Contact
Pattern
^\d+$
Namespace in Pattern
False
Example Identifier
12345   Resolve
Metaregistry

The metaregistry provides mappings between the Bioregistry and other registries. There are 6 mappings to external registries for clinvar.

Registry Name Metaprefix Metaidentifier
Biolink Model Registry biolink CLINVAR
Cellosaurus Registry cellosaurus ClinVar
Identifiers.org miriam clinvar
Name-to-Thing n2t clinvar
Prefix Commons prefixcommons ClinVar
Wikidata Property wikidata P1929
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar:12345 is used to demonstrate the provides available for clinvar. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URL
ClinVar Variation ID clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/12345
Bioregistry bioregistry https://bioregistry.io/clinvar:12345
Identifiers.org miriam https://identifiers.org/clinvar:12345
Name-to-Thing n2t https://n2t.net/clinvar:12345