Allele Registry

Canonical Allele Identifier: PA2573093126

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000407481

RCV000559267

RCV001277250

ClinVar Variation:

288113

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Arg485His	CA833367 NM_017739.4:c.1454G>A