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: PA167432

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142109

ClinVar RCV Id: RCV000130943 RCV000460345 RCV000508593 RCV000663100 RCV001800440

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Met1324Leu	CA002546 NM_007294.4:c.3970A>T CA10594030 NM_007294.4:c.3970A>C