Allele Registry

Canonical Allele Identifier: PA109753

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008152

ClinVar Variation:

7713

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Gly117Arg	CA254233 NM_000303.3:c.349G>C