Allele Registry

Canonical Allele Identifier: PA110131

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008158

RCV000790822

ClinVar Variation:

7719

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Val231Met	CA220628 NM_000303.3:c.691G>A