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        "hgvsWellDefined": "NP_001243359.1:p.Ser752Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580249473",
      "coordinates": [
        {
          "allele": "A",
          "end": 2670,
          "referenceAllele": "C",
          "start": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030652",
      "geneNCBI_id": 85439,
      "geneSymbol": "STON2",
      "hgvs": [
        "NM_001394390.1:c.2426C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381319.1:p.Ser809Tyr",
        "hgvsWellDefined": "NP_001381319.1:p.Ser809Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614646.5:c.2426C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001394390.1:c.2426C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477736.2:p.Ser809Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001381319.1:p.Ser809Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}