Allele Registry

Canonical Allele Identifier: PA109526

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008148

RCV000403363

ClinVar Variation:

7709

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Arg162Trp	CA254231 NM_000303.3:c.484C>T