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      "geneNCBI_id": 728586,
      "geneSymbol": "CCDC192",
      "hgvs": [
        "XR_002956177.1:n.435-8038C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "endIntronDirection": "-",
          "endIntronOffset": 8037,
          "referenceAllele": "C",
          "start": 501,
          "startIntronDirection": "-",
          "startIntronOffset": 8038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049566",
      "geneNCBI_id": 728586,
      "geneSymbol": "CCDC192",
      "hgvs": [
        "XR_948757.3:n.502-8038C="
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      "referenceSequence": "http://reg.genome.network/refseq/RS615144"
    },
    {
      "coordinates": [
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          "endIntronDirection": "-",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN049566",
      "geneNCBI_id": 728586,
      "geneSymbol": "CCDC192",
      "hgvs": [
        "NM_001317938.2:c.412-8038C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304867.2:n.412-8038C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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        }
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    }
  ],
  "type": "nucleotide"
}