ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915996527
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480977
ClinVar RCV Id:
RCV000572180
RCV001865734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg496Leu
CA10599071
NM_007300.4:c.1487G>T