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          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.3:c.730C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Arg244Ter",
        "hgvsWellDefined": "NP_001005612.2:p.Arg244_Ser386delinsGluAsnGlnProAlaValValHisLeuGlnGlyGlnGlySerAlaIleGlnValLysAsnGlyGlyValLeuAsnAspTrpSerArgIleThrMetAsnProLysValPheLysLeuHisProArgSerGlyGluLeuGluValLeuValAspGlyThrTyrPheIleTyrSerGlnValTyrTyrIleAsnPheThrAspPheAlaSerTyrGluValValValAspGluLysProPheLeuGlnCysThrArgSerIleGluThrGlyLysThrAsnTyrAsnThrCysTyrThrAlaGlyValCysLeuLeuLysAlaArgGlnLysIleAlaValLysMetValHisAlaAspIleSerIleAsnMetSerLysHisThrThrPhePheGlyAlaIleArgLeuGlyGluAlaProAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675204"
    }
  ],
  "type": "nucleotide"
}