Allele Registry

Canonical Allele Identifier: PA109910

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000437277

RCV002524829

ClinVar Variation:

379257

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Leu104Val	CA7893997 NM_000303.3:c.310C>G