Canonical Allele Identifier: PA2826336119
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288113
ClinVar RCV Id: RCV000407481 RCV000559267 RCV001277250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Arg485His
CA833367
NM_001243766.2:c.1454G>A