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      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Arg166Ter",
        "hgvsWellDefined": "ENSP00000489080.1:p.Arg166_Phe293delinsGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.*348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.*348C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.625C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Arg209Ter",
        "hgvsWellDefined": "ENSP00000489128.1:p.Arg209_Leu277del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344975",
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Arg233Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Arg233_Phe360delinsGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Arg234Ter",
        "hgvsWellDefined": "NP_009006.2:p.Arg234_Phe361delinsGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344975",
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Arg233Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Arg233_Phe360delinsGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.697C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.697C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Arg233Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Arg233Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA214838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Arg234Ter",
        "hgvsWellDefined": "NP_009006.2:p.Arg234_Phe361delinsGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}