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            "hgvs": "NM_022436.3:c.834G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Ala278="
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Ala278="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 2426,
          "referenceAllele": "C",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.*16-2427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-2427C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 2426,
          "referenceAllele": "C",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.*16-2427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-2427C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}