Allele Registry

Canonical Allele Identifier: PA109922

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008160

RCV000169510

RCV000790826

RCV002514383

ClinVar Variation:

7721

92807

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Leu32Arg	CA220630 NM_000303.3:c.95_96delinsGC CA340690 NM_000303.3:c.95T>G