Allele Registry

Canonical Allele Identifier: PA327991

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.9428009307

Score -2.2095068897

Score -2.3704204372

Linked Data - NCBI & NCI

ClinVar Allele:

70155

ClinVar RCV:

RCV000577271

RCV000759559

RCV001072582

RCV001379222

RCV001554320

ClinVar Variation:

55488

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Arg1753Thr	CA003398 NM_007294.4:c.5258G>C