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        "hgvsWellDefined": "ENSP00000489080.1:p.Lys158_Phe293delinsGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
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      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
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      "hgvs": [
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        "hgvsWellDefined": "NP_001025067.1:p.Lys225_Phe360delinsGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
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          "allele": "T",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001029896.2:c.673A>T"
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        },
        "protein": {
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            "hgvs": "NP_001025067.1:p.Lys225Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741936557",
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.676A>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_009006.2:p.Lys226_Phe361delinsGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}