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      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
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        {
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          "end": 301,
          "referenceAllele": "C",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000479547.1:p.Arg96_Leu358delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263889",
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        {
          "allele": "T",
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          "start": 460
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      ],
      "gene": "http://reg.genome.network/gene/GN002076",
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      "geneSymbol": "CLN5",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_006484.1:p.Arg145_Leu407delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Arg145Ter",
        "hgvsWellDefined": "XP_011533219.1:p.Arg145_Gly246delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215227",
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg96Ter",
        "hgvsWellDefined": "NP_001353553.1:p.Arg96_Gly197delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976520",
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg96Ter",
        "hgvsWellDefined": "NP_006484.2:p.Arg96_Leu358delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 2223,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-2224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-2224G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215227",
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg96Ter",
        "hgvsWellDefined": "NP_001353553.1:p.Arg96_Gly197delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976520",
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg96Ter",
        "hgvsWellDefined": "NP_006484.2:p.Arg96_Leu358delinsLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.286C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.286C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Arg96Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Arg96Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}