Canonical Allele Identifier: PA916000116
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54994
ClinVar RCV Id: RCV000048320 RCV000112174 RCV000212176 RCV000216713
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Lys1254Glu
CA002415
NM_007300.4:c.3760A>G