Allele Registry

Canonical Allele Identifier: PA110061

Gene: PMM2 HGNC NCBI

ClinVar Allele:

33997

ClinVar RCV:

RCV000020237

RCV000514240

RCV000623731

RCV001257700

RCV003407349

ClinVar Variation:

21145

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Thr237Met	CA341667 NM_000303.3:c.710C>T