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          "end": 5009,
          "referenceAllele": "C",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4899C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Tyr1633Ter",
        "hgvsWellDefined": "NP_001305756.1:p.Tyr1633_Val1704delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827011033",
      "coordinates": [
        {
          "allele": "A",
          "end": 4953,
          "referenceAllele": "C",
          "start": 4952
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4863C>A"
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      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Tyr1621Ter",
        "hgvsWellDefined": "NP_001305758.1:p.Tyr1621_Val1692delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016420",
      "coordinates": [
        {
          "allele": "A",
          "end": 4812,
          "referenceAllele": "C",
          "start": 4811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4476C>A"
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      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Tyr1492Ter",
        "hgvsWellDefined": "NP_001305760.1:p.Tyr1492_Val1563delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020933",
      "coordinates": [
        {
          "allele": "A",
          "end": 5108,
          "referenceAllele": "C",
          "start": 5107
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.5040C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Tyr1680Ter",
        "hgvsWellDefined": "NP_001305761.1:p.Tyr1680_Val1751delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095345",
      "coordinates": [
        {
          "allele": "A",
          "end": 5120,
          "referenceAllele": "C",
          "start": 5119
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.5010C>A"
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      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Tyr1670Ter",
        "hgvsWellDefined": "NP_001350457.1:p.Tyr1670_Val1741delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983513",
      "coordinates": [
        {
          "allele": "A",
          "end": 5189,
          "referenceAllele": "C",
          "start": 5188
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.5079C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Tyr1693Ter",
        "hgvsWellDefined": "NP_066399.2:p.Tyr1693_Val1764delinsProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}