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        "hgvs": "NP_001181927.1:p.Leu1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380950.7:c.3149T="
          },
          "RefSeq": {
            "hgvs": "NM_001194998.2:c.3149T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370337.2:p.Leu1050="
          },
          "RefSeq": {
            "hgvs": "NP_001181927.1:p.Leu1050="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081992285",
      "coordinates": [
        {
          "allele": "T",
          "end": 3265,
          "referenceAllele": "T",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "NM_014985.4:c.3149T="
      ],
      "proteinEffect": {
        "hgvs": "NP_055800.2:p.Leu1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697410"
    }
  ],
  "type": "nucleotide"
}