Allele Registry

Canonical Allele Identifier: PA266635

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.8342463789

Score -0.6985225555

Score -1.2196180789

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000048839

RCV000077606

RCV000214443

RCV000236284

RCV001354040

RCV002490620

ClinVar Variation:

55441

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ser1722Phe	CA003318 NM_007294.4:c.5165C>T