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          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_000254.3:c.2756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000245.2:p.Asp919Gly",
        "hgvsWellDefined": "NP_000245.2:p.Asp919Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366577.10:c.2756A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000254.3:c.2756A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355536.5:p.Asp919Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000245.2:p.Asp919Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}