ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA164814
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141223
ClinVar RCV Id:
RCV000129634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1056Cys
CA002062
NM_007294.4:c.3167C>G