Allele Registry

Canonical Allele Identifier: PA109733

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000078593

RCV000607305

RCV002055093

ClinVar Variation:

92803

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Glu197Ala	CA146027 NM_000303.3:c.590A>C