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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
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        {
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      ],
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      },
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      "referenceSequence": "http://reg.genome.network/refseq/RS381407"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS127936"
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_060352.1:p.Tyr50_His311delinsPheThrLeuGlnAsnTrpValLeuAspPheGlyArgProIleAlaMetLeuValPheProLeuGluTrpPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.150C>G"
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          "RefSeq": {
            "hgvs": "NM_017882.3:c.150C>G"
          }
        },
        "protein": {
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          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}