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: PA2829698176

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 867386

ClinVar RCV Id: RCV001076063 RCV002348509

ClinVar Variation Id: 867387

ClinVar RCV Id: RCV001076064

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Val1763Leu	CA10590579 NM_007297.4:c.5287G>T CA10590581 NM_007297.4:c.5287G>C