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        "hgvsWellDefined": "NP_001244894.1:p.Ile1076Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
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      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
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          "allele": "C",
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          "endIntronDirection": "-",
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      "hgvs": [
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  ],
  "type": "nucleotide"
}