Allele Registry

Canonical Allele Identifier: PA110141

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008164

ClinVar Variation:

7725

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Val44Ala	CA254236 NM_000303.3:c.131T>C