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      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.14818C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Arg4940Ter",
        "hgvsWellDefined": "NP_001036188.1:p.Arg4940_Ser5033delinsAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}