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      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5152del"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5152del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Cys1718AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Cys1718AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}