Allele Registry

Canonical Allele Identifier: PA109889

Gene: PMM2 HGNC NCBI

ClinVar Allele:

22757

ClinVar RCV:

RCV000008157

ClinVar Variation:

7718

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Ile132Thr	CA340689 NM_000303.3:c.395T>C