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      "geneSymbol": "CTSD",
      "hgvs": [
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        {
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          "referenceAllele": "C",
          "start": 850
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        "hgvsWellDefined": "ENSP00000236671.2:p.Gln240_Leu412delinsProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer"
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    },
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      "gene": "http://reg.genome.network/gene/GN002529",
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      "geneSymbol": "CTSD",
      "hgvs": [
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        "hgvsWellDefined": "ENSP00000415036.1:p.Gln225_Ala299del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS294817"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS333759"
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        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
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      "gene": "http://reg.genome.network/gene/GN002529",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001900.1:p.Gln240_Leu412delinsProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741890681",
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
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      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001900.1:p.Gln240Ter",
        "hgvsWellDefined": "NP_001900.1:p.Gln240_Leu412delinsProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665240",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236671.7:c.718C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001909.5:c.718C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236671.2:p.Gln240Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001900.1:p.Gln240Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}