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
ENSP00000268261.4:p.Val129Leu	CA394696572 ENST00000268261.9:c.385G>T CA394696573 ENST00000268261.9:c.385G>C