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        "hgvs": "NP_071364.4:p.Gln631="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398145.7:c.1891C="
          },
          "RefSeq": {
            "hgvs": "NM_022081.6:c.1891C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381213.2:p.Gln631="
          },
          "RefSeq": {
            "hgvs": "NP_071364.4:p.Gln631="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146316.2:n.2479C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731249"
    }
  ],
  "type": "nucleotide"
}