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      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.1314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ser438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.1314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.1314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ser438="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ser438="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ser434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}