Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000514570.1:p.Asp513Glu	CA366737972 ENST00000699762.1:c.1539C>G CA366737973 ENST00000699762.1:c.1539C>A