Allele Registry

Canonical Allele Identifier: PA2573093133

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000004207

RCV000411094

RCV000798530

RCV001091843

RCV002476922

RCV002512742

RCV003460424

RCV004532285

ClinVar Variation:

4000

HGVS (amino-acid)	Matching Registered Transcripts
NP_060209.4:p.Cys490Tyr	CA116564 NM_017739.4:c.1469G>A