ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915996936
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481462
ClinVar RCV Id:
RCV000566780
RCV001370219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu572Lys
CA10598601
NM_007300.4:c.1714G>A