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      "referenceSequence": "http://reg.genome.network/refseq/RS059257"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS059258"
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      "coordinates": [
        {
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          "endIntronDirection": "-",
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      "proteinEffect": {
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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/RS083865"
    },
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS083866"
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          "referenceAllele": "C",
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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/RS517655"
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS517656"
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          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066864",
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        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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        {
          "allele": "A",
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          "endIntronDirection": "-",
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      "gene": "http://reg.genome.network/gene/GN016014",
      "geneNCBI_id": 64921,
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      "proteinEffect": {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS544257"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544258"
    },
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      "coordinates": [
        {
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          "start": 1066
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544259"
    },
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      "coordinates": [
        {
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          "start": 971
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544260"
    },
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      "coordinates": [
        {
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          "end": 903,
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          "start": 902
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566278"
    },
    {
      "coordinates": [
        {
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          "start": 985
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566279"
    },
    {
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        {
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          "start": 780
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS580613"
    },
    {
      "coordinates": [
        {
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          "start": 785
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536444",
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        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825536822",
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        {
          "allele": "T",
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          "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/RS676501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826864977",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
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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/RS683363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827382381",
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001333642.1:p.Gln317_Pro473delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029038",
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "geneSymbol": "SGCE",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001333644.1:p.Gln317Ter",
        "hgvsWellDefined": "NP_001333644.1:p.Gln317_Pro464delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383004",
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346717.2:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333646.1:p.Gln281Ter",
        "hgvsWellDefined": "NP_001333646.1:p.Gln281_Pro428delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383344",
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346719.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333648.1:p.Gln252Ter",
        "hgvsWellDefined": "NP_001333648.1:p.Gln252_Pro408delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827383651",
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001346720.2:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333649.1:p.Gln190Ter",
        "hgvsWellDefined": "NP_001333649.1:p.Gln190_Pro346delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066271",
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362807.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349736.1:p.Gln252Ter",
        "hgvsWellDefined": "NP_001349736.1:p.Gln252_Pro399delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066529",
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362808.2:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349737.1:p.Gln190Ter",
        "hgvsWellDefined": "NP_001349737.1:p.Gln190_Pro337delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828066864",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_001362809.2:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349738.1:p.Gln240Ter",
        "hgvsWellDefined": "NP_001349738.1:p.Gln240_Pro387delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891852007",
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NM_003919.3:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003910.1:p.Gln281Ter",
        "hgvsWellDefined": "NP_003910.1:p.Gln281_Pro437delinsValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648936.2:c.841C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003919.3:c.841C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497130.1:p.Gln281Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003910.1:p.Gln281Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}