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      "gene": "http://reg.genome.network/gene/GN009652",
      "geneNCBI_id": 26191,
      "geneSymbol": "PTPN22",
      "hgvs": [
        "XM_017001006.1:c.88-3920C="
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      "proteinEffect": {
        "hgvs": "XP_016856495.1:n.88-3920C="
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      "referenceSequence": "http://reg.genome.network/refseq/RS557267"
    },
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      "coordinates": [
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          "allele": "C",
          "end": 176,
          "endIntronDirection": "-",
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          "referenceAllele": "C",
          "start": 176,
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          "startIntronOffset": 3920
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      "gene": "http://reg.genome.network/gene/GN009652",
      "geneNCBI_id": 26191,
      "geneSymbol": "PTPN22",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS668915"
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      "geneNCBI_id": 26191,
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      "hgvs": [
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      "proteinEffect": {
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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}