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      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NM_001376.5:c.12600G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001367.2:p.Gly4200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360184.10:c.12600G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001376.5:c.12600G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348965.4:p.Gly4200="
          },
          "RefSeq": {
            "hgvs": "NP_001367.2:p.Gly4200="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}