Canonical Allele Identifier: PA2829692885
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54900
ClinVar RCV Id: RCV000577396 RCV000775157 RCV001296731
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Ser1117Ile
CA002249
NM_007297.4:c.3350G>T