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      "geneNCBI_id": 79981,
      "geneSymbol": "FRMD1",
      "hgvs": [
        "NM_001394681.1:c.139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381610.1:p.Ala47Thr",
        "hgvsWellDefined": "NP_001381610.1:p.Ala47Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782342"
    }
  ],
  "type": "nucleotide"
}