Allele Registry

Canonical Allele Identifier: PA2826335406

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000050015

ClinVar Variation:

56602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230695.2:p.Ser198Arg	CA263975 NM_001243766.2:c.594C>G CA340186912 NM_001243766.2:c.594C>A CA340186949 NM_001243766.2:c.592A>C