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656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001350624.1:p.Gln142Ter", "hgvsWellDefined": "NP_001350624.1:p.Gln142_Gly282delinsHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523489" }, { "@id": "http://reg.genome.network/allele/PA316932", "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_000310.4:c.424C>T" ], "proteinEffect": { "hgvs": "NP_000301.1:p.Gln142Ter", "hgvsWellDefined": "NP_000301.1:p.Gln142_Gly306delinsHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674784", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642050.2:c.424C>T" }, "RefSeq": { "hgvs": "NM_000310.4:c.424C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493153.1:p.Gln142Ter" }, "RefSeq": { "hgvs": "NP_000301.1:p.Gln142Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 138, "endIntronDirection": "-", "endIntronOffset": 1825, "referenceAllele": "C", "start": 138, "startIntronDirection": "-", "startIntronOffset": 1826 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001142604.2:c.125-1826C>T" ], "proteinEffect": { "hgvs": "NP_001136076.1:n.125-1826C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS677588" }, { "@id": "http://reg.genome.network/allele/PA916043979", "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001350624.1:p.Gln142Ter", "hgvsWellDefined": "NP_001350624.1:p.Gln142_Gly282delinsHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690744" } ], "type": "nucleotide" }