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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 1648,
          "referenceAllele": "G",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 1647
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.726+1648G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1648G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166011",
      "coordinates": [
        {
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          "end": 742,
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      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.728G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Trp243Ter",
        "hgvsWellDefined": "NP_000301.1:p.Trp243_Gly306delinsPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.728G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Trp243Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Trp243Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805422",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001136076.1:p.Trp140_Gly203delinsPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.726+1648G>A"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}