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        "hgvs": "NP_001365381.1:p.Val1562Met",
        "hgvsWellDefined": "NP_001365381.1:p.Val1562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.4684G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.4684G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Val1562Met"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Val1562Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829365908",
      "coordinates": [
        {
          "allele": "A",
          "end": 4962,
          "referenceAllele": "G",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.7:c.4612G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Val1538Met",
        "hgvsWellDefined": "NP_002213.5:p.Val1538Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727258"
    }
  ],
  "type": "nucleotide"
}