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      "@id": "http://reg.genome.network/allele/PA236149",
      "coordinates": [
        {
          "allele": "C",
          "end": 3434,
          "referenceAllele": "G",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_015338.6:c.2989G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056153.2:p.Glu997Gln",
        "hgvsWellDefined": "NP_056153.2:p.Glu997Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375687.10:c.2989G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015338.6:c.2989G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364839.4:p.Glu997Gln"
          },
          "RefSeq": {
            "hgvs": "NP_056153.2:p.Glu997Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}