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        "hgvs": "NP_001161744.1:p.Leu1549Pro",
        "hgvsWellDefined": "NP_001161744.1:p.Leu1549Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499256013",
      "coordinates": [
        {
          "allele": "C",
          "end": 5041,
          "referenceAllele": "T",
          "start": 5040
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      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001378452.1:c.4691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365381.1:p.Leu1564Pro",
        "hgvsWellDefined": "NP_001365381.1:p.Leu1564Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.4691T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.4691T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Leu1564Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Leu1564Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829365910",
      "coordinates": [
        {
          "allele": "C",
          "end": 4969,
          "referenceAllele": "T",
          "start": 4968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.7:c.4619T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Leu1540Pro",
        "hgvsWellDefined": "NP_002213.5:p.Leu1540Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727258"
    }
  ],
  "type": "nucleotide"
}