Canonical Allele Identifier: PA2826336422
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56589
ClinVar RCV Id: RCV000050002 RCV001269853 RCV001853064 RCV002513696 RCV003460642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Arg605His
CA263958
NM_001243766.2:c.1814G>A