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      },
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      "referenceSequence": "http://reg.genome.network/refseq/RS306919"
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    {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS010735"
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      "referenceSequence": "http://reg.genome.network/refseq/RS025125"
    },
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          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029129"
    },
    {
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        {
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    },
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        {
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          "endIntronDirection": "-",
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          "startIntronOffset": 30575
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083863"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083864"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS083866"
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083869"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517653"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS544255"
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      "referenceSequence": "http://reg.genome.network/refseq/RS544257"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544258"
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      "coordinates": [
        {
          "allele": "G",
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        "hgvsWellDefined": "XP_011514969.1:p.Tyr285_Phe438delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "XM_011516669.3:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514971.1:p.Tyr223Ter",
        "hgvsWellDefined": "XP_011514971.1:p.Tyr223_Phe376delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
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      "hgvs": [
        "XM_017012763.1:c.855C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868252.1:p.Tyr285Ter",
        "hgvsWellDefined": "XP_016868252.1:p.Tyr285_Phe438delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566278"
    },
    {
      "coordinates": [
        {
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          "end": 1087,
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          "start": 1086
        }
      ],
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      "hgvs": [
        "XM_017012767.1:c.669C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016868256.1:p.Tyr223_Phe367delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
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      ],
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      "hgvs": [
        "XM_024446985.1:c.819C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024302753.1:p.Tyr273_Phe426delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580613"
    },
    {
      "coordinates": [
        {
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          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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        "XM_024446986.1:c.819C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024302754.1:p.Tyr273_Phe417delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536475",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
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      "hgvs": [
        "NM_001099400.2:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092870.1:p.Tyr314Ter",
        "hgvsWellDefined": "NP_001092870.1:p.Tyr314_Leu451delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536853",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "NM_001099401.2:c.942C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001092871.1:p.Tyr314_Pro462delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826865037",
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
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      "hgvs": [
        "NM_001301139.2:c.819C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001288068.1:p.Tyr273_Pro396delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382413",
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
        "NM_001346713.2:c.1050C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001333642.1:p.Tyr350_Pro473delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249965",
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        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001333644.1:p.Tyr350_Pro464delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383036",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383376",
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001333648.1:p.Tyr285_Pro408delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383682",
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346720.2:c.669C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001333649.1:p.Tyr223_Pro346delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066302",
      "coordinates": [
        {
          "allele": "G",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362807.2:c.855C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001349736.1:p.Tyr285_Pro399delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066560",
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362808.2:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349737.1:p.Tyr223Ter",
        "hgvsWellDefined": "NP_001349737.1:p.Tyr223_Pro337delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066896",
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362809.2:c.819C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349738.1:p.Tyr273Ter",
        "hgvsWellDefined": "NP_001349738.1:p.Tyr273_Pro387delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829454113",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_003919.3:c.942C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003910.1:p.Tyr314Ter",
        "hgvsWellDefined": "NP_003910.1:p.Tyr314_Pro437delinsThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648936.2:c.942C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003919.3:c.942C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497130.1:p.Tyr314Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003910.1:p.Tyr314Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}