Allele Registry

Canonical Allele Identifier: PA2741814397

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV003822449

ClinVar Variation:

2961803

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Ile153Lys	CA394696883 NM_000303.3:c.458T>A