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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu1188="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu1188="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3478,
          "referenceAllele": "T",
          "start": 3477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.3393T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu1131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3684,
          "referenceAllele": "T",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.2940T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}