Allele Registry

Canonical Allele Identifier: PA2499230887

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV001380615

RCV003953695

ClinVar Variation:

1068915

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Val129Leu	CA394696572 NM_000303.3:c.385G>T CA394696573 NM_000303.3:c.385G>C