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
ENSP00000456774.1:p.Asp78Glu	CA394695970 ENST00000566604.5:c.234T>A CA394695971 ENST00000566604.5:c.234T>G