Allele Registry

Canonical Allele Identifier: PA2579757872

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.0960865234

Score -0.0381111813

Score 0.0530415653

Score -0.1302102637

Score -0.2795429237

Score -0.1774255058

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001072767

RCV001072768

RCV001862482

ClinVar Variation:

865368

865369

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Trp1782Cys	CA10590770 NM_007294.4:c.5346G>T CA10590771 NM_007294.4:c.5346G>C