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
ENSP00000454395.1:p.Val44Leu	CA394695252 ENST00000562318.5:c.130G>C CA394695254 ENST00000562318.5:c.130G>T