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        "NM_001035.3:c.13327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Glu4443Lys",
        "hgvsWellDefined": "NP_001026.2:p.Glu4443Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.13327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.13327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Glu4443Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Glu4443Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}