Allele Registry

Canonical Allele Identifier: PA2826776552

Gene: POMGNT1 HGNC NCBI

ClinVar RCV:

RCV000169201

RCV001847570

ClinVar Variation:

3988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277059.2:p.Ser407Asn	CA116540 NM_001290130.2:c.1220G>A