Canonical Allele Identifier: PA2826336155
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4000
ClinVar RCV Id: RCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 RCV004532285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Cys490Tyr
CA116564
NM_001243766.2:c.1469G>A