Allele Registry

Canonical Allele Identifier: PA220626

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000180133

ClinVar Variation:

92805

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.His218Asp	CA220625 NM_000303.3:c.652C>G