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        "hgvs": "NP_001365707.1:p.Glu1329Lys",
        "hgvsWellDefined": "NP_001365707.1:p.Glu1329Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721835",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319217.12:c.3985G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378778.1:c.3985G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320006.7:p.Glu1329Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001365707.1:p.Glu1329Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}