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"hgvs": [ "XM_017025784.1:c.3226C>T" ], "proteinEffect": { "hgvs": "XP_016881273.1:p.Arg1076Ter", "hgvsWellDefined": "XP_016881273.1:p.Arg1076_Gly1281delinsLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576072" }, { "coordinates": [ { "allele": "T", "end": 3389, "referenceAllele": "C", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025785.1:c.3226C>T" ], "proteinEffect": { "hgvs": "XP_016881274.1:p.Arg1076Ter", "hgvsWellDefined": "XP_016881274.1:p.Arg1076_Phe1273delinsLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576073" }, { "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025786.1:c.3175C>T" ], "proteinEffect": { "hgvs": "XP_016881275.1:p.Arg1059Ter", "hgvsWellDefined": "XP_016881275.1:p.Arg1059_Gly1264delinsLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576074" }, { "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025787.1:c.3175C>T" ], "proteinEffect": { "hgvs": "XP_016881276.1:p.Arg1059Ter", "hgvsWellDefined": "XP_016881276.1:p.Arg1059_Ser1256delinsLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576075" }, { "@id": "http://reg.genome.network/allele/PA273934", "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "NM_000271.5:c.3175C>T" ], "proteinEffect": { "hgvs": "NP_000262.2:p.Arg1059Ter", "hgvsWellDefined": "NP_000262.2:p.Arg1059_Phe1278delinsLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269228.10:c.3175C>T" }, "RefSeq": { "hgvs": "NM_000271.5:c.3175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269228.4:p.Arg1059Ter" }, "RefSeq": { "hgvs": "NP_000262.2:p.Arg1059Ter" } } } } ], "type": "nucleotide" }