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      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gln294Lys",
        "hgvsWellDefined": "NP_001352064.1:p.Gln294Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1005C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 442,
          "referenceAllele": "C",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.563+442C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}