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      "geneNCBI_id": 6813,
      "geneSymbol": "STXBP2",
      "hgvs": [
        "NM_001272034.2:c.659T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258963.1:p.Leu220Pro",
        "hgvsWellDefined": "NP_001258963.1:p.Leu220Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "referenceAllele": "T",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011445",
      "geneNCBI_id": 6813,
      "geneSymbol": "STXBP2",
      "hgvs": [
        "NR_073560.2:n.666T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702771"
    }
  ],
  "type": "nucleotide"
}