Allele Registry

Canonical Allele Identifier: PA110078

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV004574572

ClinVar Variation:

3240154

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Tyr106Cys	CA394696272 NM_000303.3:c.317A>G