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          "end": 4046,
          "referenceAllele": "C",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3642C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Ser1214Arg",
        "hgvsWellDefined": "NP_001165401.1:p.Ser1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077445525",
      "coordinates": [
        {
          "allele": "A",
          "end": 4046,
          "referenceAllele": "C",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.3642C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ser1214Arg",
        "hgvsWellDefined": "NP_071407.4:p.Ser1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3642C>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3642C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ser1214Arg"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ser1214Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}