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      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.1015+239T>A"
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      "proteinEffect": {
        "hgvs": "NP_001357681.1:n.1015+239T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 3113,
          "referenceAllele": "T",
          "start": 565,
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          "startIntronOffset": 3112
        }
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      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:n.399+3113T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
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        "hgvs": "NP_001268655.2:n.*3032T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}