Canonical Allele Identifier: PA915996357
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187241
ClinVar RCV Id: RCV000166956 RCV000239192 RCV000549550 RCV001192525
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.His448Tyr
CA000880
NM_007300.4:c.1342C>T