Allele Registry

Canonical Allele Identifier: PA109603

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008151

RCV000790726

ClinVar Variation:

7712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asp188Gly	CA234697 NM_000303.3:c.563A>G