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    {
      "@id": "http://reg.genome.network/allele/PA2573290308",
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015508",
      "geneNCBI_id": 80324,
      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_025215.6:c.45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079491.2:p.Trp15Ter",
        "hgvsWellDefined": "NP_079491.2:p.Trp15_Asp427delinsThrLeuArgLeuGlyProArgProSerCysSerProArgMetAlaGlyAsnAlaGluProProProAlaGlyAlaAlaCysProGlnAspArgArgSerCysSerGlyArgAlaGlyGlyAspArgValTrpGluAspGlyGluHisProAlaLysLysLeuLysSerGlyGlyAspGluGluArgArgGluLysProProLysArgLysIleValLeuLeuMetAlaTyrSerGlyLysGlyTyrHisGlyMetGlnArgAsnValGlySerSerGlnPheLysThrIleGluAspAspLeuValSerAlaLeuValArgSerGlyCysIleProGluAsnHisGlyGluAspMetArgLysMetSerPheGlnArgCysAlaArgThrAspLysGlyValSerAlaAlaGlyGlnValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376649.8:c.45G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025215.6:c.45G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365837.3:p.Trp15Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079491.2:p.Trp15Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}