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            "hgvs": "ENST00000261866.12:c.5392G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.5392G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Glu1798Lys"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Glu1798Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948194",
      "coordinates": [
        {
          "allele": "A",
          "end": 5407,
          "referenceAllele": "G",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.5392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Glu1798Lys",
        "hgvsWellDefined": "NP_001153699.1:p.Glu1798Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}