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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350386.2:p.Cys499Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000381.1:p.Cys499Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828062704",
      "coordinates": [
        {
          "allele": "A",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.2:c.1053C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:p.Cys351Ter",
        "hgvsWellDefined": "NP_001349447.1:p.Cys351_Glu505delinsMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690508"
    }
  ],
  "type": "nucleotide"
}