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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.480C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.480C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Phe160Leu"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Phe160Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}