ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915997560
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482921
ClinVar RCV Id:
RCV000570229
RCV000696958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys712Phe
CA10597733
NM_007300.4:c.2135G>T