Allele Registry

Canonical Allele Identifier: PA259766

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000023149

ClinVar Variation:

30225

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Tyr106Phe	CA259765 NM_000303.3:c.317A>T