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      "hgvs": [
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        "hgvsWellDefined": "XP_016873279.1:p.[Glu3022del;Thr3024_Gln3038delinsArgHisCysAlaGlnCysTrpTrpThrSerGluPheAlaHisThr;Ile3040_Leu3045delinsGlyHisArgProGlnLys;Arg3047_Leu3048delinsGlnProThr;Gly3051Arg]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
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          "endIntronDirection": "+",
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      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.640+20519dup"
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      "hgvs": [
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      ],
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      "gene": "http://reg.genome.network/gene/GN000795",
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      "hgvs": [
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        "hgvs": "NP_001338763.1:p.Glu3022GlyfsTer?",
        "hgvsWellDefined": "NP_001338763.1:p.[Glu3022del;Thr3024_Gln3038delinsArgHisCysAlaGlnCysTrpTrpThrSerGluPheAlaHisThr;Ile3040_Leu3045delinsGlyHisArgProGlnLys;Arg3047_Leu3048delinsGlnProThr;Gly3051Arg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
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      "gene": "http://reg.genome.network/gene/GN000795",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Glu3022GlyfsTer?",
        "hgvsWellDefined": "NP_000042.3:p.[Glu3022del;Thr3024_Gln3038delinsArgHisCysAlaGlnCysTrpTrpThrSerGluPheAlaHisThr;Ile3040_Leu3045delinsGlyHisArgProGlnLys;Arg3047_Leu3048delinsGlnProThr;Gly3051Arg]"
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        "protein": {
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        }
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  "type": "nucleotide"
}