ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645447949
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252392
ClinVar RCV Id:
RCV000238995
RCV001344583
RCV002338789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp40Asn
CA10585923
NM_007294.4:c.118G>A