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_005255430.1:p.Val46Leu	CA394696572 XM_005255373.3:c.136G>T CA394696573 XM_005255373.3:c.136G>C