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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.274+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.274+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:n.274+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:n.274+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.297+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.274+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:n.274+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}