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      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Trp236Cys",
        "hgvsWellDefined": "NP_000160.1:p.Trp236Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.708G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.708G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Trp236Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Trp236Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.787G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}