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      "@id": "http://reg.genome.network/allele/PA096675",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029182",
      "geneNCBI_id": 22897,
      "geneSymbol": "CEP164",
      "hgvs": [
        "NM_014956.5:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055771.4:p.Arg93Trp",
        "hgvsWellDefined": "NP_055771.4:p.Arg93Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278935.8:c.277C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014956.5:c.277C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278935.3:p.Arg93Trp"
          },
          "RefSeq": {
            "hgvs": "NP_055771.4:p.Arg93Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826541948",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029182",
      "geneNCBI_id": 22897,
      "geneSymbol": "CEP164",
      "hgvs": [
        "NM_001271933.2:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258862.1:p.Arg93Trp",
        "hgvsWellDefined": "NP_001258862.1:p.Arg93Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715320"
    }
  ],
  "type": "nucleotide"
}