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: PA2829687825

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55741

ClinVar RCV Id: RCV000111492 RCV000496473 RCV000775184 RCV001348061 RCV003105786

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Met250Leu	CA003948 NM_007297.4:c.748A>C CA10600297 NM_007297.4:c.748A>T