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
ENSP00000514563.1:p.Arg497Gln
ENST00000699754.1:c.1490G>A

ENST00000699754.1:c.1490_1491delinsAG