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        "hgvs": "XP_011529434.1:p.Ile78Thr",
        "hgvsWellDefined": "XP_011529434.1:p.Ile78Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828057838",
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346945.1:p.Ile48Thr",
        "hgvsWellDefined": "NP_001346945.1:p.Ile48Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.143T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.143T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Ile48Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Ile48Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA095138",
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "T",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Ile48Thr",
        "hgvsWellDefined": "NP_001035810.1:p.Ile48Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}