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
ENSP00000507262.1:p.Val74Leu	CA394695916 ENST00000683274.1:c.220G>T CA394695917 ENST00000683274.1:c.220G>C