ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915996316
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54196
ClinVar RCV Id:
RCV000111587
RCV001361576
RCV002381347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu440Ser
CA000860
NM_007300.4:c.1319T>C