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      },
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        {
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
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        "hgvsWellDefined": "XP_005272216.1:p.Trp391_His630delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
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    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340125.1:p.Trp456_His695delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340126.1:p.Trp454_His693delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN009202",
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      "hgvs": [
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        "hgvsWellDefined": "XP_024303148.1:p.Trp109_His348delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
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        {
          "allele": "A",
          "end": 1728,
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          "start": 1727
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      ],
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      "geneNCBI_id": 10585,
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        "XM_024447381.1:c.632G>A"
      ],
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        "hgvsWellDefined": "XP_024303149.1:p.Trp211_His450delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
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        {
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      ],
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        "XM_024447382.1:c.326G>A"
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        "hgvsWellDefined": "XP_024303150.1:p.Trp109_His348delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
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        {
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        "XR_001746160.2:n.1627G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
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        {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      ],
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        "XR_001746164.1:n.1549G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
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            "hgvs": "ENST00000402686.8:c.1457G>A"
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          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1457G>A"
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        },
        "protein": {
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            "hgvs": "ENSP00000385797.4:p.Trp486Ter"
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          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Trp486Ter"
          }
        }
      }
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      "@id": "http://reg.genome.network/allele/PA2825446918",
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815700",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1882
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      "gene": "http://reg.genome.network/gene/GN009202",
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        "NM_001136113.2:c.1457G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001129585.1:p.Trp486_His725delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816801",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN009202",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713151",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1948
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      "gene": "http://reg.genome.network/gene/GN009202",
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      "hgvs": [
        "NM_001353193.2:c.1523G>A"
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      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Trp508Ter",
        "hgvsWellDefined": "NP_001340122.2:p.Trp508_His747delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713730",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
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      "hgvs": [
        "NM_001353194.2:c.1295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Trp432Ter",
        "hgvsWellDefined": "NP_001340123.1:p.Trp432_His671delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714261",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
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      "hgvs": [
        "NM_001353195.2:c.1106G>A"
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      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Trp369Ter",
        "hgvsWellDefined": "NP_001340124.1:p.Trp369_His608delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714835",
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
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      ],
      "gene": "http://reg.genome.network/gene/GN009202",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Trp456Ter",
        "hgvsWellDefined": "NP_001340125.1:p.Trp456_His695delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715435",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
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      "hgvs": [
        "NM_001353197.2:c.1361G>A"
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      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Trp454Ter",
        "hgvsWellDefined": "NP_001340126.2:p.Trp454_His693delinsAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716025",
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
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      "hgvs": [
        "NM_001353198.2:c.1361G>A"
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  "type": "nucleotide"
}