Allele Registry

Canonical Allele Identifier: PA2826336512

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000362367

RCV001085021

ClinVar Variation:

288627

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230695.2:p.Asn633His	CA10606162 NM_001243766.2:c.1897A>C