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            "hgvs": "ENST00000378617.4:c.214T>G"
          },
          "RefSeq": {
            "hgvs": "NM_032634.4:c.214T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367880.3:p.Leu72Val"
          },
          "RefSeq": {
            "hgvs": "NP_116023.2:p.Leu72Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_001201484.2:c.214T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188413.1:p.Leu72Val",
        "hgvsWellDefined": "NP_001188413.1:p.Leu72Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023215",
      "geneNCBI_id": 84720,
      "geneSymbol": "PIGO",
      "hgvs": [
        "NM_152850.4:c.214T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_690577.2:p.Leu72Val",
        "hgvsWellDefined": "NP_690577.2:p.Leu72Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729432"
    }
  ],
  "type": "nucleotide"
}