ClinGen Allele Registry
Allele Registry
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
ENSP00000454071.1:p.Pro685Leu
ENST00000558518.6:c.2054C>T