ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915996530
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54267
ClinVar RCV Id:
RCV000111628
RCV001364594
RCV002390197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg496Ser
CA000995
NM_007300.4:c.1486C>A