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        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011578",
      "geneNCBI_id": 23216,
      "geneSymbol": "TBC1D1",
      "hgvs": [
        "NM_001253912.2:c.373C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001240841.1:p.Arg125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011578",
      "geneNCBI_id": 23216,
      "geneSymbol": "TBC1D1",
      "hgvs": [
        "NM_001396959.1:c.373C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001383888.1:p.Arg125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000698857.1:c.373C="
          },
          "RefSeq": {
            "hgvs": "NM_001396959.1:c.373C="
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000513987.1:p.Arg125="
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          "RefSeq": {
            "hgvs": "NP_001383888.1:p.Arg125="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}