Allele Registry

Canonical Allele Identifier: PA2826335473

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000050019

RCV002514268

RCV003466919

ClinVar Variation:

56606

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230695.2:p.Glu223Lys	CA263984 NM_001243766.2:c.667G>A