Allele Registry

Canonical Allele Identifier: PA2573165950

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV001945657

ClinVar Variation:

1422606

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Ile153Arg	CA394696886 NM_000303.3:c.458T>G