Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2829704754

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 182121

ClinVar RCV Id: RCV000159933 RCV000215880 RCV000549303 RCV001077746

ClinVar Variation Id: 868776

ClinVar RCV Id: RCV001077748

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Lys20Asn	CA003760 NM_007298.3:c.60A>C CA10602035 NM_007298.3:c.60A>T