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      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Arg3234Ter",
        "hgvsWellDefined": "XP_016865463.1:p.Arg3234_Arg3597delinsThrAsnGlyIleAspLeuAlaValSerValGlnTrpGluThrValSerGluThrAlaPheGlyMetArgGlyMetAspValValPheSerValPheGlnSerPheLeuAspGluSerAlaSerGlyTrpCysPhePheThrLeuGluAsnLeuIleTyrGlyIleMetLeuArgLysSerSerValThrValTyrArgTrpGlnGlyIlePheIleProValGluAspLeuAsnIleGluAsnProLysThrCysGluAlaPheAsnIleGlyPheSerProTyrPheValIleThrHisGluGluArgAsnGluGluLysProSerLeuAsnSerValPheThrPheThrSerGlyPheLysLeuPheLeuValGlnThrIleIleIleLeuGluSerSerGlnValArgTyrPheThrSerAspSerGlnAspTyrLeuIleIleAlaSerGlnArgAspAspSerGluLeuThrGlnValPheArgTrpAsnGlyGlySerPheValLeuHisGlnLysLeuProValArgGlyValLeuThrValAlaLeuPheAsnLysGlyGlySerValPheLeuAlaIleSerGlnAlaAsnAlaArgLeuAsnSerLeuLeuPheArgTrpSerGlySerGlyPheIleAsnPheGlnGluValProValSerGlyThrThrGluValGluAlaLeuSerSerAlaAsnAspIleTyrLeuIlePheAlaGluAsnValPheLeuGlyAspGlnAsnSerIleAspIlePheIleTrpGluMetGlyGlnSerSerPheArgTyrPheGlnSerValAspPheAlaAlaValAsnArgIleHisSerPheThrProAlaSerGlyIleAlaHisIleLeuLeuIleGlyGlnAspMetSerAlaLeuTyrCysTrpAsnSerGluArgAsnGlnPheSerPheValLeuGluValProSerAlaTyrAspValAlaSerValThrValLysSerLeuAsnSerSerLysAsnLeuIleAlaLeuValGlyAlaHisSerHisIleTyrGluLeuAlaTyrIleSerSerHisSerAspPheIleProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "endIntronDirection": "-",
          "endIntronOffset": 5180,
          "referenceAllele": "G",
          "start": 2522,
          "startIntronDirection": "-",
          "startIntronOffset": 5181
        }
      ],
      "hgvs": [
        "XR_001742802.1:n.2523-5181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9695,
          "referenceAllele": "C",
          "start": 9694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.9695C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}