ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915997713
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000159965
RCV000206207
RCV000571520
RCV001255547
ClinVar Variation:
182143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp749Val
CA001506
NM_007300.4:c.2246A>T