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        "hgvsWellDefined": "NP_057206.2:p.Arg630_Glu701delinsSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697666",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397809.10:c.1888C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016122.3:c.1888C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380911.4:p.Arg630Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057206.2:p.Arg630Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NR_160431.1:n.1612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2633,
          "referenceAllele": "C",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NR_160432.1:n.2633C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825399528",
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NM_001042399.2:c.1888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035858.1:p.Arg630Ter",
        "hgvsWellDefined": "NP_001035858.1:p.Arg630_Glu701delinsSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827373811",
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NM_001346458.2:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333387.1:p.Arg526Ter",
        "hgvsWellDefined": "NP_001333387.1:p.Arg526_Glu597delinsSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827374104",
      "coordinates": [
        {
          "allele": "T",
          "end": 2101,
          "referenceAllele": "C",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NM_001346459.2:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333388.1:p.Arg526Ter",
        "hgvsWellDefined": "NP_001333388.1:p.Arg526_Glu597delinsSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718943"
    }
  ],
  "type": "nucleotide"
}