Canonical Allele Identifier: PA263946
Gene: POMGNT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001230695.1:p.Gly448Arg
NM_001243766.1:c.1342G>A

NM_001243766.1:c.1342G>C