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          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "NM_006623.4:c.781G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006614.2:p.Val261Met",
        "hgvsWellDefined": "NP_006614.2:p.Val261Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696766",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641023.2:c.781G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006623.4:c.781G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493175.1:p.Val261Met"
          },
          "RefSeq": {
            "hgvs": "NP_006614.2:p.Val261Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}