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          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5140C>T"
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          "RefSeq": {
            "hgvs": "NM_000548.5:c.5140C>T"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln1714Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln1714Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828415421",
      "coordinates": [
        {
          "allele": "T",
          "end": 5118,
          "referenceAllele": "C",
          "start": 5117
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.5008C>T"
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      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Gln1670Ter",
        "hgvsWellDefined": "NP_001357333.1:p.Gln1670_Val1763delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828421562",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.5011C>T"
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      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Gln1671Ter",
        "hgvsWellDefined": "NP_001357334.1:p.Gln1671_Val1760delinsMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825439430",
      "coordinates": [
        {
          "allele": "T",
          "end": 5049,
          "referenceAllele": "C",
          "start": 5048
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.4939C>T"
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      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1647Ter",
        "hgvsWellDefined": "NP_001070651.1:p.Gln1647_Val1740delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825577468",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 5180
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.5071C>T"
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      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1691Ter",
        "hgvsWellDefined": "NP_001107854.1:p.Gln1691_Val1784delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827005374",
      "coordinates": [
        {
          "allele": "T",
          "end": 4941,
          "referenceAllele": "C",
          "start": 4940
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4831C>T"
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      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln1611Ter",
        "hgvsWellDefined": "NP_001305756.1:p.Gln1611_Val1704delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010316",
      "coordinates": [
        {
          "allele": "T",
          "end": 4885,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4795C>T"
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      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln1599Ter",
        "hgvsWellDefined": "NP_001305758.1:p.Gln1599_Val1692delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827016319",
      "coordinates": [
        {
          "allele": "T",
          "end": 4744,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4408C>T"
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      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln1470Ter",
        "hgvsWellDefined": "NP_001305760.1:p.Gln1470_Val1563delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827020833",
      "coordinates": [
        {
          "allele": "T",
          "end": 5040,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.4972C>T"
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      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln1658Ter",
        "hgvsWellDefined": "NP_001305761.1:p.Gln1658_Val1751delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828095245",
      "coordinates": [
        {
          "allele": "T",
          "end": 5052,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.4942C>T"
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      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln1648Ter",
        "hgvsWellDefined": "NP_001350457.1:p.Gln1648_Val1741delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983268",
      "coordinates": [
        {
          "allele": "T",
          "end": 5121,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.5011C>T"
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      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln1671Ter",
        "hgvsWellDefined": "NP_066399.2:p.Gln1671_Val1764delinsMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}