Allele Registry

Canonical Allele Identifier: PA109585

Gene: PMM2 HGNC NCBI

ClinVar Allele:

194820

ClinVar RCV:

RCV000178754

RCV000514031

RCV000624392

RCV003416095

ClinVar Variation:

197659

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asp148Asn	CA275299 NM_000303.3:c.442G>A