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        "hgvs": "NP_065873.2:p.Leu437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371757.7:c.1309C="
          },
          "RefSeq": {
            "hgvs": "NM_020822.3:c.1309C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360822.2:p.Leu437="
          },
          "RefSeq": {
            "hgvs": "NP_065873.2:p.Leu437="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826547848",
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.2:c.1174C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Leu392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681247"
    }
  ],
  "type": "nucleotide"
}