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        "hgvsWellDefined": "NP_001027.3:p.Arg2233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000634891.2:c.6698G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001036.6:c.6698G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000489262.1:p.Arg2233Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001027.3:p.Arg2233Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916007641",
      "coordinates": [
        {
          "allele": "A",
          "end": 6777,
          "referenceAllele": "G",
          "start": 6776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010485",
      "geneNCBI_id": 6263,
      "geneSymbol": "RYR3",
      "hgvs": [
        "NM_001243996.4:c.6698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230925.1:p.Arg2233Gln",
        "hgvsWellDefined": "NP_001230925.1:p.Arg2233Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714542"
    }
  ],
  "type": "nucleotide"
}