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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "NM_000430.4:c.949G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000421.1:p.Asp317His",
        "hgvsWellDefined": "NP_000421.1:p.Asp317His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397195.10:c.949G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000430.4:c.949G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380378.4:p.Asp317His"
          },
          "RefSeq": {
            "hgvs": "NP_000421.1:p.Asp317His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}