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        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.4:c.345T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Tyr115Ter",
        "hgvsWellDefined": "NP_000279.1:p.Tyr115_Ala323delinsSerValAspTrpSerGlnThrArgGlyGluGlnLeuValValSerGlySerTrpAspGlnThrValLysLeuTrpAspProThrValGlyLysSerLeuCysThrPheArgGlyHisGluSerIleIleTyrSerThrIleTrpSerProHisIleProGlyCysPheAlaSerAlaSerGlyAspGlnThrLeuArgIleTrpAspValLysAlaAlaGlyValArgIleValIleProAlaHisGlnAlaGluIleLeuSerCysAspTrpCysLysTyrAsnGluAsnLeuLeuValThrGlyAlaValAspCysSerLeuArgGlyTrpAspLeuArgAsnValArgGlnProValPheGluLeuLeuGlyHisThrTyrAlaIleArgArgValLysPheSerProPheHisAlaSerValLeuAlaSerCysSerTyrAspPheThrValArgPheTrpAsnPheSerLysProAspSerLeuLeuGluThrValGluHisHisThrGluPheThrCysGlyLeuAspPheSerLeuGlnSerProThrGlnValAlaAspCysSerTrpAspGluThrIleLysIleTyrAspProAlaCysLeuThrIleProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318471.5:c.345T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000288.4:c.345T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315680.3:p.Tyr115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000279.1:p.Tyr115Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}