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
XP_011520840.1:p.Val129Leu	CA394696572 XM_011522538.1:c.385G>T CA394696573 XM_011522538.1:c.385G>C