Allele Registry

Canonical Allele Identifier: PA109491

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000254854

RCV000576764

RCV004021026

ClinVar Variation:

265255

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Arg123Gln	CA7894040 NM_000303.3:c.368G>A