ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene:
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000321706.5:p.Arg684Gln
ENST00000319004.5:c.2051G>A