Allele Registry

Canonical Allele Identifier: PA2741814388

Gene: PMM2 HGNC NCBI

ClinVar Allele:

2890595

ClinVar RCV:

RCV003511424

ClinVar Variation:

2733135

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asp65Asn	CA394695813 NM_000303.3:c.193G>A