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        "hgvsWellDefined": "NP_001273034.1:p.Gln227_Ser338delinsAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Gln249Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Gln249_Ser360delinsAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707245",
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Gln273Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Gln273_Ser384delinsAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}