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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.2452C>T"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.2452C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Gln818Ter"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Gln818Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2716,
          "referenceAllele": "C",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Gln818Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}