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          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NM_002047.4:c.548T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002038.2:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389266.8:c.548T="
          },
          "RefSeq": {
            "hgvs": "NM_002047.4:c.548T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373918.3:p.Leu183="
          },
          "RefSeq": {
            "hgvs": "NP_002038.2:p.Leu183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}