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      "referenceSequence": "http://reg.genome.network/refseq/RS775775"
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        {
          "allele": "A",
          "end": 878,
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          "start": 877
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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/RS776117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "-",
          "endIntronOffset": 3027,
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          "startIntronOffset": 3028
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248733"
    },
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        {
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          "endIntronDirection": "+",
          "endIntronOffset": 3118,
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          "startIntronOffset": 3117
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS267276"
    },
    {
      "coordinates": [
        {
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          "start": 674
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      "referenceSequence": "http://reg.genome.network/refseq/RS302469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468622",
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
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          "start": 952
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      ],
      "gene": "http://reg.genome.network/gene/GN016873",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033518"
    },
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      "coordinates": [
        {
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          "start": 820
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
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      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_011536281.3:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534583.1:p.Trp225Ter",
        "hgvsWellDefined": "XP_011534583.1:p.Trp225_Leu886delinsLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016867080.1:p.Trp246Ter",
        "hgvsWellDefined": "XP_016867080.1:p.Trp246_Ala743delinsLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgHisThrLeuGlyAlaValSerLeuProGluAlaArgSerLeuIleHisGlnLysSerTrpAsnCysCysValPheGlyIleTyrCysGlyIleTrpSerGlyPheSerSerAsnGlyGluValAlaPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011592.1:c.189G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867081.1:p.Trp63Ter",
        "hgvsWellDefined": "XP_016867081.1:p.Trp63_Leu724delinsLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "endIntronDirection": "+",
          "endIntronOffset": 3118,
          "referenceAllele": "G",
          "start": 786,
          "startIntronDirection": "+",
          "startIntronOffset": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011593.2:c.-55+3118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867082.1:n.-55+3118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468622",
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.6:c.738G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:p.Trp246Ter",
        "hgvsWellDefined": "NP_055660.1:p.Trp246_Leu907delinsLeuLeuTyrIleIleHisGlyPheCysGlyGlnSerLysLeuLeuIleTyrGlyArgProValTyrValThrLeuIleAlaArgArgSerSerLysPheAlaGlyThrArgPheLeuLysArgGlyAlaAsnCysGluGlyAspValAlaAsnGluValGluThrGluGlnIleLeuCysAspAlaSerValMetSerPheThrAlaGlySerTyrSerSerTyrValGlnValArgGlySerValProLeuTyrTrpSerGlnAspIleSerThrMetMetProLysProProIleThrLeuAspGlnAlaAspProPheAlaHisValAlaAlaLeuHisPheAspGlnMetPheGlnArgPheGlySerProIleIleIleLeuAsnLeuValLysGluArgGluLysArgLysHisGluArgIleLeuSerGluGluLeuValAlaAlaValThrTyrLeuAsnGlnPheLeuProProGluHisThrIleValTyrIleProTrpAspMetAlaLysTyrThrLysSerLysLeuCysAsnValLeuAspArgLeuAsnValIleAlaGluSerValValLysLysThrGlyPhePheValAsnArgProAspSerTyrCysSerIleLeuArgProAspGluLysTrpAsnGluLeuGlyGlyCysValIleProThrGlyArgLeuGlnThrGlyIleLeuArgThrAsnCysValAspCysLeuAspArgThrAsnThrAlaGlnPheMetValGlyLysCysAlaLeuAlaTyrGlnLeuTyrSerLeuGlyLeuIleAspLysProAsnLeuGlnPheAspThrAspAlaValArgLeuPheGluGluLeuTyrGluAspHisGlyAspThrLeuSerLeuGlnTyrGlyGlySerGlnLeuValHisArgValLysThrTyrArgLysIleAlaProTrpThrGlnHisSerLysAspIleMetGlnThrLeuSerArgTyrTyrSerAsnAlaPheSerAspAlaAspArgGlnAspSerIleAsnLeuPheLeuGlyValPheHisProThrGluGlyLysProHisLeuTrpGluLeuProThrAspPheTyrLeuHisHisLysAsnThrMetArgLeuLeuProThrArgArgSerTyrThrTyrTrpTrpThrProGluValIleLysHisLeuProLeuProTyrAspGluValIleCysAlaValAsnLeuLysLysLeuIleValLysLysPheHisLysTyrGluGluGluIleAspIleHisAsnGluPhePheArgProTyrGluLeuSerSerPheAspAspThrPheCysLeuAlaMetThrSerSerAlaArgAspPheMetProLysThrValGlyIleAspProSerProPheThrValArgLysProAspGluThrGlyLysSerValLeuGlyAsnLysSerAsnArgGluGluAlaValLeuGlnArgLysThrAlaAlaSerAlaProProProProSerGluGluAlaValSerSerSerSerGluAspAspSerGlyThrAspArgGluGluGluGlySerValSerGlnArgSerThrProValLysMetThrAspAlaGlyAspSerAlaLysValThrGluAsnValValGlnProMetLysGluLeuTyrGlyIleAsnLeuSerAspGlyLeuSerGluGluAspPheSerIleTyrSerArgPheValGlnLeuGlyGlnSerGlnHisLysGlnAspLysAsnSerGlnGlnProCysSerArgCysSerAspGlyValIleLysLeuThrProIleSerAlaPheSerGlnAspAsnIleTyrGluValGlnProProArgValAspArgLysSerThrGluIlePheGlnAlaHisIleGlnAlaSerGlnGlyIleMetGlnProLeuGlyLysGluAspSerSerMetTyrArgGluTyrIleArgAsnArgTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.738G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.738G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:p.Trp246Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:p.Trp246Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}