Allele Registry

Canonical Allele Identifier: PA260712

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.9005114249

Score -1.8549344846

Score -1.3160295667

Linked Data - NCBI & NCI

ClinVar Allele:

46183

ClinVar RCV:

RCV000031208

RCV000048760

RCV000485950

RCV000574915

RCV002250478

ClinVar Variation:

37627

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr1691Lys	CA003188 NM_007294.4:c.5072C>A