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      "hgvs": [
        "NM_001244438.2:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231367.1:p.Trp130Ter",
        "hgvsWellDefined": "NP_001231367.1:p.Trp130_Lys330delinsValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4270,
          "endIntronDirection": "+",
          "endIntronOffset": 6431,
          "referenceAllele": "C",
          "start": 4270,
          "startIntronDirection": "+",
          "startIntronOffset": 6430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_001270521.2:c.4077+6431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257450.1:n.4077+6431C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 1781,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NM_001369020.1:c.306-1782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355949.1:n.306-1782G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4288,
          "endIntronDirection": "+",
          "endIntronOffset": 6431,
          "referenceAllele": "C",
          "start": 4288,
          "startIntronDirection": "+",
          "startIntronOffset": 6430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002372",
      "geneNCBI_id": 9439,
      "geneSymbol": "MED23",
      "hgvs": [
        "NM_015979.4:c.4095+6431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057063.2:n.4095+6431C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000663",
      "geneNCBI_id": 383,
      "geneSymbol": "ARG1",
      "hgvs": [
        "NR_160934.1:n.349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705240"
    }
  ],
  "type": "nucleotide"
}