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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
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      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
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      "@id": "http://reg.genome.network/allele/PA2825356891",
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000375437.7:c.4876C>T"
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          "RefSeq": {
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        }
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          "start": 5272
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472870",
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Arg1626Ter",
        "hgvsWellDefined": "NP_001358175.1:p.Arg1626_Lys2005delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.4876C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.4876C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Arg1626Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Arg1626Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828476435",
      "coordinates": [
        {
          "allele": "T",
          "end": 4982,
          "referenceAllele": "C",
          "start": 4981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.4876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Arg1626Ter",
        "hgvsWellDefined": "NP_001358176.1:p.Arg1626_Lys2005delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407755",
      "coordinates": [
        {
          "allele": "T",
          "end": 5008,
          "referenceAllele": "C",
          "start": 5007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.4876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Arg1626Ter",
        "hgvsWellDefined": "NP_066287.2:p.Arg1626_Lys2005delinsValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}