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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.9022C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.9022C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg3008Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg3008Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 9249,
          "referenceAllele": "G",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 9250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.1105-9250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}