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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.3988C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Leu1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526833",
      "coordinates": [
        {
          "allele": "C",
          "end": 4120,
          "referenceAllele": "C",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.3988C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Leu1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}