ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916000247
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629161
ClinVar RCV Id:
RCV000773853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1279Pro
CA10594296
NM_007300.4:c.3835G>C