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: PMS2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000514628.1:p.Lys357dup
ENST00000699827.1:c.[1070_1071dup;1072dup...
ENST00000699827.1:c.1069_1071dup