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
ENSP00000454284.1:p.Val13Leu	CA394694839 ENST00000566540.5:c.37G>C CA394694841 ENST00000566540.5:c.37G>T