Allele Registry

Canonical Allele Identifier: PA2499230884

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV001342702

ClinVar Variation:

1039261

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Val44Ile	CA394695253 NM_000303.3:c.130G>A