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.

Prefix
clinvar.record
Links
Homepage
Contact
Missing Contact
Pattern
^RCV\d+(\.\d+)?$
Namespace in Pattern
False
Example Identifier
RCV000033555.3   Resolve
Metaregistry

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for clinvar.record.

Registry Name Metaprefix Metaidentifier
Identifiers.org miriam clinvar.record
Name-to-Thing n2t clinvar.record
Prefix Commons prefixcommons CLINVAR.RECORD
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar.record:RCV000033555.3 is used to demonstrate the provides available for clinvar.record. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URL
ClinVar Record clinvar.record http://www.ncbi.nlm.nih.gov/clinvar/RCV000033555.3
Bioregistry bioregistry https://bioregistry.io/clinvar.record:RCV000033555.3
Identifiers.org miriam https://identifiers.org/clinvar.record:RCV000033555.3
Name-to-Thing n2t https://n2t.net/clinvar.record:RCV000033555.3