Allele Registry

Canonical Allele Identifier: PA2580113330

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV003123256

ClinVar Variation:

2429015

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Cys9Phe	CA394694801 NM_000303.3:c.26G>T