ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829699590
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481476
ClinVar RCV Id:
RCV000566477
RCV000802512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Gly129Val
CA055836
NM_007298.3:c.386G>T