Allele Registry

Canonical Allele Identifier: PA110115

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008147

RCV000344673

ClinVar Variation:

7708

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Val129Met	CA254230 NM_000303.3:c.385G>A