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
ENSP00000514567.1:p.Val43Leu	CA366745012 ENST00000699758.1:c.127G>T CA366745013 ENST00000699758.1:c.127G>C