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          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "NM_000265.7:c.579G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000256.4:p.Trp193Ter",
        "hgvsWellDefined": "NP_000256.4:p.Trp194_Val390delinsPheCysGlnMetLysAlaLysArgGlyTrpIleProAlaSerPheLeuGluProLeuAspSerProAspGluThrGluAspProGluProAsnTyrAlaGlyGluProTyrValAlaIleLysAlaTyrThrAlaValGluGlyAspGluValSerLeuLeuGluGlyGluAlaValGluValIleHisLysLeuLeuAspGlyTrpTrpValIleArgLysAspAspValThrGlyTyrPheProSerMetTyrLeuGlnLysSerGlyGlnAspValSerGlnAlaGlnArgGlnIleLysArgGlyAlaProProArgArgSerSerIleArgAsnAlaHisSerIleHisGlnArgSerArgLysArgLeuSerGlnAspAlaTyrArgArgAsnSerValArgPheLeuGlnGlnArgArgArgGlnAlaArgProGlyProGlnSerProGlySerProLeuGluGluGluArgGlnThrGlnArgSerLysProGlnProAlaValProProArgProSerAlaAspLeuIleLeuAsnArgCysSerGluSerThrLysArgLysLeuAlaSerAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289473.11:c.579G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000265.7:c.579G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289473.4:p.Trp193Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000256.4:p.Trp193Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}