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: PMM2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000457956.1:p.Val204Leu	CA394689577 ENST00000566983.5:c.610G>T CA394689581 ENST00000566983.5:c.610G>C