Allele Registry

Canonical Allele Identifier: PA249539

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.4293725315

Score 0.7647886731

Score 0.4074936571

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000112647

RCV000120302

RCV000148405

RCV000162993

RCV000679701

RCV001086725

RCV001353560

ClinVar Variation:

55568

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Val1804Asp	CA003575 NM_007294.4:c.5411T>A