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        "hgvsWellDefined": "NP_001356316.1:p.Ser293_Leu381delinsLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423027.8:c.878C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369387.1:c.878C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408489.2:p.Ser293Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001356316.1:p.Ser293Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA130670",
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.3:c.878C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:p.Ser293Ter",
        "hgvsWellDefined": "NP_001135811.1:p.Ser293_Leu381delinsLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826482749",
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.2:c.878C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:p.Ser293Ter",
        "hgvsWellDefined": "NP_001248372.1:p.Ser293_Leu381delinsLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715023"
    }
  ],
  "type": "nucleotide"
}