ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915996133
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652057
ClinVar RCV Id:
RCV000807543
RCV003158192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser398Leu
CA057085
NM_007300.4:c.1193C>T