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            "hgvs": "ENST00000366574.7:c.13823G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.13823G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Arg4608Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Arg4608Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}