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      "gene": "http://reg.genome.network/gene/GN020266",
      "geneNCBI_id": 29880,
      "geneSymbol": "ALG5",
      "hgvs": [
        "XR_001749540.2:n.970+204G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "endIntronDirection": "+",
          "endIntronOffset": 204,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "+",
          "startIntronOffset": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020266",
      "geneNCBI_id": 29880,
      "geneSymbol": "ALG5",
      "hgvs": [
        "NM_013338.5:c.773+204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037470.1:n.773+204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239891.4:c.773+204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013338.5:c.773+204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000239891.3:n.773+204G>A"
          },
          "RefSeq": {
            "hgvs": "NP_037470.1:n.773+204G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}