Allele Registry

Canonical Allele Identifier: PA2826775981

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000407481

RCV000559267

RCV001277250

ClinVar Variation:

288113

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277058.2:p.Arg463His	CA833367 NM_001290129.2:c.1388G>A