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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_183079.4:c.631G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898902.1:p.Glu211Ter",
        "hgvsWellDefined": "NP_898902.1:p.Glu211_Gly253delinsGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701163"
    }
  ],
  "type": "nucleotide"
}