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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.3988C>G"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.3988C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Leu1330Val"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Leu1330Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}