ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915997697
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188330
ClinVar RCV Id:
RCV000168347
RCV001014829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala744Asp
CA001494
NM_007300.4:c.2231C>A