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      "referenceSequence": "http://reg.genome.network/refseq/RS721704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.5504T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.5504T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Leu1835Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Leu1835Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829366076",
      "coordinates": [
        {
          "allele": "C",
          "end": 5665,
          "referenceAllele": "T",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.7:c.5315T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Leu1772Pro",
        "hgvsWellDefined": "NP_002213.5:p.Leu1772Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727258"
    }
  ],
  "type": "nucleotide"
}