Canonical Allele Identifier: PA2829686418
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54389
ClinVar RCV Id: RCV000047628 RCV000111972 RCV000485649 RCV000567313 RCV000590194
ClinVar Variation Id: 867315
ClinVar RCV Id: RCV001075979
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Leu16Phe
CA001240
NM_007297.4:c.48A>T
CA10601788
NM_007297.4:c.48A>C