Allele Registry

Canonical Allele Identifier: PA268332

Gene: BRCA1 HGNC NCBI

MaveDb:

Score -1.3300443301

Score -1.7554764846

Score -1.3086339836

ClinVar Allele:

70079

ClinVar RCV:

RCV000048808

RCV000112502

RCV000733369

RCV001023598

ClinVar Variation:

55412

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Val1713Ala	CA003262 NM_007294.4:c.5138T>C