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
ENSP00000457932.1:p.Leu64Phe	CA394696517 ENST00000565221.5:c.192G>C CA394696518 ENST00000565221.5:c.192G>T