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      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.2:c.235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:p.Gln79Ter",
        "hgvsWellDefined": "XP_011523270.1:p.Gln79_Pro166delinsSerSerValIleProAspArgGluTyrLeuArgLysLysAsnGluGluLeuGluGlnLeuTyrGlnAspGlnGluValProLysProLysSerTrpGlyGlyTyrValLeuTyrProGlnValMetGluPheTrpGlnGlyGlnThrAsnArgLeuHisAspArgIleValPheArgArgGlyLeuProThrGlyAspSerProLeuGlyProMetThrHisArgGlyGluGluAspTrpLeuTyrGluArgLeuAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_017024813.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880302.1:p.Gln94Ter",
        "hgvsWellDefined": "XP_016880302.1:p.Gln94_Pro181delinsSerSerValIleProAspArgGluTyrLeuArgLysLysAsnGluGluLeuGluGlnLeuTyrGlnAspGlnGluValProLysProLysSerTrpGlyGlyTyrValLeuTyrProGlnValMetGluPheTrpGlnGlyGlnThrAsnArgLeuHisAspArgIleValPheArgArgGlyLeuProThrGlyAspSerProLeuGlyProMetThrHisArgGlyGluGluAspTrpLeuTyrGluArgLeuAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118333",
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "C",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.4:c.520C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Gln174Ter",
        "hgvsWellDefined": "NP_060599.1:p.Gln174_Pro261delinsSerSerValIleProAspArgGluTyrLeuArgLysLysAsnGluGluLeuGluGlnLeuTyrGlnAspGlnGluValProLysProLysSerTrpGlyGlyTyrValLeuTyrProGlnValMetGluPheTrpGlnGlyGlnThrAsnArgLeuHisAspArgIleValPheArgArgGlyLeuProThrGlyAspSerProLeuGlyProMetThrHisArgGlyGluGluAspTrpLeuTyrGluArgLeuAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.520C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.520C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Gln174Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Gln174Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}