Allele Registry

Canonical Allele Identifier: PA110049

Gene: PMM2 HGNC NCBI

ClinVar Allele:

22755

ClinVar RCV:

RCV000008155

RCV000790820

RCV002251889

RCV002512893

ClinVar Variation:

7716

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Thr237Arg	CA220629 NM_000303.3:c.710C>G