Allele Registry

Canonical Allele Identifier: PA2573165976

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV002050839

ClinVar Variation:

1348470

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.His218Asn	CA394689385 NM_000303.3:c.652C>A