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          "end": 4043,
          "referenceAllele": "A",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.3:c.3862A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Asn1288Asp",
        "hgvsWellDefined": "NP_001171455.1:p.Asn1288Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713539"
    }
  ],
  "type": "nucleotide"
}