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      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
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        "hgvs": "XP_016882371.1:n.2317-2A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS576926"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_002682.2:n.2389-2A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695609",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "hgvs": [
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}