Allele Registry

Canonical Allele Identifier: PA109482

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000078587

RCV000178072

RCV001270234

ClinVar Variation:

92800

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Ala108Val	CA220618 NM_000303.3:c.323C>T