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        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.4648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:p.Gln1550Ter",
        "hgvsWellDefined": "NP_001361803.1:p.Gln1550_Arg1697delinsAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829786095",
      "coordinates": [
        {
          "allele": "T",
          "end": 4889,
          "referenceAllele": "C",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.4651C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Gln1551Ter",
        "hgvsWellDefined": "NP_055595.2:p.Gln1551_Arg1698delinsAlaGluGlyGluAspGlyGlnAsnLeuGluLysArgArgAsnLeuLeuAsnCysLeuIleValArgIleLeuLysAlaHisGlyAspGluGlyLeuHisIleAspGlnLeuValCysLeuValLeuGluAlaTrpGlnLysGlyProCysProProArgGlyLeuValSerSerLeuGlyLysGlySerAlaCysSerSerThrAspValLeuSerCysIleLeuHisLeuLeuGlyLysGlyThrLeuArgArgHisAspAspArgProGlnValLeuSerTyrAlaValProValThrValMetGluProHisThrGluSerLeuAsnProGlySerSerGlyProAsnProProLeuThrPheHisThrLeuGlnIleArgSerArgGlyValProTyrAlaSerCysThrAlaThrGlnSerPheSerThrPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.4651C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.4651C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Gln1551Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Gln1551Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}