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      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_014336.5:c.784+7G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055151.3:n.784+7G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381129.8:c.784+7G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014336.5:c.784+7G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370521.3:n.784+7G>C"
          },
          "RefSeq": {
            "hgvs": "NP_055151.3:n.784+7G>C"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741853585",
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285403.4:c.767G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272332.1:p.Arg256Pro",
        "hgvsWellDefined": "NP_001272332.1:p.Arg256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716093"
    }
  ],
  "type": "nucleotide"
}