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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259448"
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        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032659"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065884"
    },
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      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN011584",
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      "referenceSequence": "http://reg.genome.network/refseq/RS138458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN011584",
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      "referenceSequence": "http://reg.genome.network/refseq/RS138459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
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      ],
      "gene": "http://reg.genome.network/gene/GN011584",
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      "hgvs": [
        "XR_001748674.2:n.1036C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139724374",
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
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      "hgvs": [
        "NM_013254.4:c.922C>T"
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      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Arg308Ter",
        "hgvsWellDefined": "NP_037386.1:p.Arg308_Leu729delinsMetValIleHisValPheSerLeuGlnGlnMetThrAlaHisLysIleTyrIleHisSerTyrAsnThrAlaThrIlePheHisGluLeuValTyrLysGlnThrLysIleIleSerSerAsnGlnGluLeuIleTyrGluGlyArgArgLeuValLeuGluProGlyArgLeuAlaGlnHisPheProLysThrThrGluGluAsnProIlePheValValSerArgGluProLeuAsnThrIleGlyLeuIleTyrGluLysIleSerLeuProLysValHisProArgTyrAspLeuAspGlyAspAlaSerMetAlaLysAlaIleThrGlyValValCysTyrAlaCysArgIleAlaSerThrLeuLeuLeuTyrGlnGluLeuMetArgLysGlyIleArgTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.922C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.922C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Arg308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Arg308Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}