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      "referenceSequence": "http://reg.genome.network/refseq/RS784325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316673.9:c.50-4781G>T"
          },
          "RefSeq": {
            "hgvs": "NM_175914.5:c.50-4781G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315180.4:n.50-4781G>T"
          },
          "RefSeq": {
            "hgvs": "NP_787110.2:n.50-4781G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}