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        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.2:c.381G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Trp127Ter",
        "hgvsWellDefined": "NP_001310013.1:p.Trp127_Leu240delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718301"
    }
  ],
  "type": "nucleotide"
}