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      "coordinates": [
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
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      "hgvs": [
        "XM_017020539.1:c.1267_1268dup"
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      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Leu423PhefsTer?"
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      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
          "start": 1916
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
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    {
      "coordinates": [
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          "referenceAllele": "",
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
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        "maneStatus": "MANE Select",
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}