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        "hgvsWellDefined": "XP_005250354.1:p.Tyr246_Thr600delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516113.1:c.237C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514415.1:p.Tyr79Ter",
        "hgvsWellDefined": "XP_011514415.1:p.Tyr79_Thr484delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.1:c.66C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Tyr22Ter",
        "hgvsWellDefined": "XP_011514416.1:p.Tyr22_Thr427delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.1:n.864C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
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      "geneSymbol": "GUSB",
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        "XM_005250297.4:c.738C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005250354.1:p.Tyr246_Thr600delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.2:c.66C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Tyr22Ter",
        "hgvsWellDefined": "XP_011514416.1:p.Tyr22_Thr427delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012091.1:c.237C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867580.1:p.Tyr79Ter",
        "hgvsWellDefined": "XP_016867580.1:p.Tyr79_Thr433delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012092.1:c.168C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867581.1:p.Tyr56Ter",
        "hgvsWellDefined": "XP_016867581.1:p.Tyr56_Thr410delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012093.2:c.66C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867582.1:p.Tyr22Ter",
        "hgvsWellDefined": "XP_016867582.1:p.Tyr22_Thr376delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744658.2:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744659.2:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744660.2:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744661.2:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.3:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094768",
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.4:c.738C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Tyr246Ter",
        "hgvsWellDefined": "NP_000172.2:p.Tyr246_Thr651delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.738C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.738C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Tyr246Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Tyr246Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 1117,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.475-1118C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:n.475-1118C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580189226",
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.168C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Tyr56Ter",
        "hgvsWellDefined": "NP_001280033.1:p.Tyr56_Thr461delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822418",
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.81C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Tyr27Ter",
        "hgvsWellDefined": "NP_001280034.1:p.Tyr27_Thr432delinsGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.768C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}