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        "hgvsWellDefined": "XP_006715627.1:p.Ser25_His224delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgProSerThrAspAlaAlaProGlyGlyValProAlaAlaCysAlaAlaGlyGluGlyThrHisArgValArgAlaLeuGlnArgTrpGlyGlyProLeuHisArgGlyCysLeuArgLeuAlaProValCysAspGlyLeuGluSerGluGluGlyAlaValPheProHisGlyGlnGluAlaGlyCysLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
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      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536113.1:c.74C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534415.1:p.Ser25Ter",
        "hgvsWellDefined": "XP_011534415.1:p.Ser25_Thr272delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaGluSerThrHisGlnThrTyrLeuThrPheProThrAsnGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536114.1:c.74C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011534416.1:p.Ser25_Lys270delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaAspPheGlyLeuGlyIleLeuAspTyrLeuLysGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "hgvs": [
        "XM_011536115.1:c.74C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534417.1:p.Ser25Ter",
        "hgvsWellDefined": "XP_011534417.1:p.Ser25_Lys208delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgSerArgAspGlnArgProGluPheGlnLeuCysLeuLysMetValLeuSerLeuIlePheValAlaGlnAspValHisSerThrGlnGluSerSerSerThrAlaAlaIlePheGlyAsnThrHisIleLeuTrpProValTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058303",
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        {
          "allele": "A",
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          "start": 95
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        "hgvsWellDefined": "NP_001346986.1:p.Ser25_His224delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgProSerThrAspAlaAlaProGlyGlyValProAlaAlaCysAlaAlaGlyGluGlyThrHisArgValArgAlaLeuGlnArgTrpGlyGlyProLeuHisArgGlyCysLeuArgLeuAlaProValCysAspGlyLeuGluSerGluGluGlyAlaValPheProHisGlyGlnGluAlaGlyCysLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522990"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "+",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS522991"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS522992"
    },
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      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS531860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "+",
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      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS531861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
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          "start": 593
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      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "hgvs": [
        "XM_011536113.2:c.74C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011534415.1:p.Ser25_Thr272delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaGluSerThrHisGlnThrTyrLeuThrPheProThrAsnGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552336"
    },
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        {
          "allele": "A",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024302318.1:p.Ser25_Leu281delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaGlyGlnIleLeuArgGlyGlyArgLysTrpThrLysThrAsnIleGlnLysGlyProMetLeuTrpIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706323",
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_005670.4:c.74C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005661.1:p.Ser25_Leu331delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyArgValGlnMetLeuProGlnAlaValCysLeuLeuHisAlaLeuLeuGluLysGlyHisIleValTyrValHisCysAsnAlaGlyValGlyArgSerThrAlaAlaValCysGlyTrpLeuGlnTyrValMetGlyTrpAsnLeuArgLysValGlnTyrPheLeuMetAlaLysArgProAlaValTyrIleAspGluGluAlaLeuAlaArgAlaGlnGluAspPhePheGlnLysPheGlyLysValArgSerSerValCysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667085",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367519.9:c.74C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005670.4:c.74C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356489.3:p.Ser25Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005661.1:p.Ser25Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825325284",
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
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          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001018051.1:p.Ser25_Leu317delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyArgValGlnMetLeuProGlnAlaValCysLeuLeuHisAlaLeuLeuGluLysGlyHisIleValTyrValHisCysAsnAlaGlyValGlyArgSerThrAlaAlaValCysGlyTrpLeuGlnTyrValMetGlyTrpAsnLeuArgLysValGlnTyrPheLeuMetAlaLysArgProAlaValTyrIleAspGluGluAlaAlaSerGlnAspThrPheProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058303",
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001346986.1:p.Ser25_His224delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgProSerThrAspAlaAlaProGlyGlyValProAlaAlaCysAlaAlaGlyGluGlyThrHisArgValArgAlaLeuGlnArgTrpGlyGlyProLeuHisArgGlyCysLeuArgLeuAlaProValCysAspGlyLeuGluSerGluGluGlyAlaValPheProHisGlyGlnGluAlaGlyCysLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "endIntronDirection": "+",
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      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS690494"
    },
    {
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        {
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          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "referenceSequence": "http://reg.genome.network/refseq/RS690495"
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    {
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS691360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828284170",
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        {
          "allele": "A",
          "end": 96,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001355059.1:p.Ser25Ter",
        "hgvsWellDefined": "NP_001355059.1:p.Ser25_Ser267delinsArgProGluLeuGlyArgTrpGluProArgGlyAlaValArgLeuArgProAlaGlyThrAlaAlaGlyAspGlyAlaLeuAlaLeuGlnGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyLysAspGlnAsnCysSerAlaSerLeuLeuTyrPheArgGluThrLeuAlaValCysLeuSerIleTyrAsnLeuIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
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      "geneSymbol": "EPM2A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001355060.1:n.-294C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 483,
          "referenceAllele": "C",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NR_153398.2:n.116+483C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704950"
    }
  ],
  "type": "nucleotide"
}