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        "hgvsWellDefined": "NP_001001890.1:p.Ser362_Tyr453delinsGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829819",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.1163C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Ser388Ter",
        "hgvsWellDefined": "NP_001745.2:p.Ser389_Tyr480delinsGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.1163C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.1163C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Ser388Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Ser388Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}