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      "proteinEffect": {
        "hgvs": "NP_078865.1:p.Glu18Ter",
        "hgvsWellDefined": "NP_078865.1:p.Glu18_Phe287delinsPheArgTrpLeuLeuHisAspGluValHisAlaValLeuLysGlnLeuGlnAspIleLeuLysGluAlaSerLeuArgPheThrLeuProGlySerGlyThrGluGlyProAlaLysGlnGluAsnPheIleLeuGlySerCysGlyThrAspGlnValLysGlyValLeuThrLeuGlnGlyAspAlaLeuSerGlnAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.52G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.52G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:p.Glu18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:p.Glu18Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.2:n.114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730438"
    }
  ],
  "type": "nucleotide"
}