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"NP_001340158.1:p.Gln342_Asn597delinsGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689657" }, { "@id": "http://reg.genome.network/allele/PA2827720656", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353230.2:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001340159.1:p.Gln324Ter", "hgvsWellDefined": "NP_001340159.1:p.Gln324_Asn579delinsGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689658" }, { "@id": "http://reg.genome.network/allele/PA2827722086", "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353231.2:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001340160.1:p.Gln324Ter", "hgvsWellDefined": "NP_001340160.1:p.Gln324_Asn579delinsGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689659" } ], "type": "nucleotide" }