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      "referenceSequence": "http://reg.genome.network/refseq/RS769379"
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      "referenceSequence": "http://reg.genome.network/refseq/RS769468"
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            "hgvs": "NM_003919.3:c.810G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS251813"
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    {
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        {
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          "start": 809
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 754
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294460"
    },
    {
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          "referenceAllele": "G",
          "start": 835
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000398930.2:p.Trp270_Pro462delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298479"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS299469"
    },
    {
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS306919"
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    {
      "@id": "http://reg.genome.network/allele/PA2825536432",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001099400.1:c.810G>A"
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      "proteinEffect": {
        "hgvs": "NP_001092870.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_001092870.1:p.Trp270_Leu451delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536810",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001099401.1:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092871.1:p.Trp270Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010735"
    },
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      "@id": "http://reg.genome.network/allele/PA2826864946",
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
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        "NM_001301139.1:c.687G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001288068.1:p.Trp229_Pro396delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196913",
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        {
          "allele": "A",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_003910.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_003910.1:p.Trp270_Pro437delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059257"
    },
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 8910,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005250734.1:p.Trp306_Pro464delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 28010,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "-",
          "startIntronOffset": 28011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016014",
      "geneNCBI_id": 64921,
      "geneSymbol": "CASD1",
      "hgvs": [
        "XM_011516495.1:c.2128-28011C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514797.1:n.2128-28011C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516663.1:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514965.1:p.Trp306Ter",
        "hgvsWellDefined": "XP_011514965.1:p.Trp306_Phe503delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516664.1:c.918G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514966.1:p.Trp306_Phe494delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516665.1:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514967.1:p.Trp270Ter",
        "hgvsWellDefined": "XP_011514967.1:p.Trp270_Phe467delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516666.1:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514968.1:p.Trp270Ter",
        "hgvsWellDefined": "XP_011514968.1:p.Trp270_Phe458delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516667.1:c.723G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514969.1:p.Trp241_Phe438delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516668.1:c.687G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514970.1:p.Trp229Ter",
        "hgvsWellDefined": "XP_011514970.1:p.Trp229_Phe426delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516669.1:c.537G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514971.1:p.Trp179Ter",
        "hgvsWellDefined": "XP_011514971.1:p.Trp179_Phe376delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382369",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346713.1:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333642.1:p.Trp306Ter",
        "hgvsWellDefined": "NP_001333642.1:p.Trp306_Pro473delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029035",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346715.1:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333644.1:p.Trp306Ter",
        "hgvsWellDefined": "NP_001333644.1:p.Trp306_Pro464delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382992",
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346717.1:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333646.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_001333646.1:p.Trp270_Pro428delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383332",
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346719.1:c.723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333648.1:p.Trp241Ter",
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      "referenceSequence": "http://reg.genome.network/refseq/RS517656"
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        {
          "allele": "A",
          "end": 983,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517657"
    },
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      "@id": "http://reg.genome.network/allele/PA2828066259",
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        {
          "allele": "A",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523075"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS523076"
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 28010,
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          "startIntronDirection": "-",
          "startIntronOffset": 28011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016014",
      "geneNCBI_id": 64921,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS544191"
    },
    {
      "coordinates": [
        {
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          "start": 1003
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544255"
    },
    {
      "coordinates": [
        {
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          "start": 1003
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
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          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "XM_011516665.3:c.810G>A"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544257"
    },
    {
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "XM_011516666.3:c.810G>A"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "XM_011516669.3:c.537G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514971.1:p.Trp179_Phe376delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "XM_017012763.1:c.723G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016868252.1:p.Trp241_Phe438delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_017012767.1:c.537G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016868256.1:p.Trp179_Phe367delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024302754.1:p.Trp229_Phe417delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536432",
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "NM_001099400.2:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092870.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_001092870.1:p.Trp270_Leu451delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536810",
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001099401.2:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092871.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_001092871.1:p.Trp270_Pro462delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826864946",
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001301139.2:c.687G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288068.1:p.Trp229Ter",
        "hgvsWellDefined": "NP_001288068.1:p.Trp229_Pro396delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382369",
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346713.2:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333642.1:p.Trp306Ter",
        "hgvsWellDefined": "NP_001333642.1:p.Trp306_Pro473delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029035",
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346715.2:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333644.1:p.Trp306Ter",
        "hgvsWellDefined": "NP_001333644.1:p.Trp306_Pro464delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382992",
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346717.2:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333646.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_001333646.1:p.Trp270_Pro428delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383332",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346719.2:c.723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333648.1:p.Trp241Ter",
        "hgvsWellDefined": "NP_001333648.1:p.Trp241_Pro408delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383639",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346720.2:c.537G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333649.1:p.Trp179Ter",
        "hgvsWellDefined": "NP_001333649.1:p.Trp179_Pro346delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066259",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362807.2:c.723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349736.1:p.Trp241Ter",
        "hgvsWellDefined": "NP_001349736.1:p.Trp241_Pro399delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066517",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362808.2:c.537G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349737.1:p.Trp179Ter",
        "hgvsWellDefined": "NP_001349737.1:p.Trp179_Pro337delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066852",
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362809.2:c.687G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349738.1:p.Trp229Ter",
        "hgvsWellDefined": "NP_001349738.1:p.Trp229_Pro387delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196913",
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_003919.3:c.810G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003910.1:p.Trp270Ter",
        "hgvsWellDefined": "NP_003910.1:p.Trp270_Pro437delinsCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648936.2:c.810G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003919.3:c.810G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497130.1:p.Trp270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003910.1:p.Trp270Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}