Allele Registry

Canonical Allele Identifier: PA658710110

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.227223409

Score 0.6410692452

Score -1.1663113363

Linked Data - NCBI & NCI

ClinVar Allele:

482929

853365

ClinVar RCV:

RCV000580194

RCV000804227

RCV001072909

RCV003459418

RCV003478305

ClinVar Variation:

489731

865482

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Val1808Leu	CA10590599 NM_007294.4:c.5422G>T CA10590601 NM_007294.4:c.5422G>C