Allele Registry

Canonical Allele Identifier: PA109791

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000179744

RCV000790723

ClinVar Variation:

92804

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Gly208Ala	CA220624 NM_000303.3:c.623G>C