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: PA2829713169

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741973

ClinVar RCV Id: RCV002342526

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Glu437Asp	CA10592263 NM_007299.4:c.1311G>T CA10592264 NM_007299.4:c.1311G>C