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"NP_000301.1:p.Trp186_Gly306delinsHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674784", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642050.2:c.557G>A" }, "RefSeq": { "hgvs": "NM_000310.4:c.557G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493153.1:p.Trp186Ter" }, "RefSeq": { "hgvs": "NP_000301.1:p.Trp186Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915979809", "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "G", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001142604.2:c.248G>A" ], "proteinEffect": { "hgvs": "NP_001136076.1:p.Trp83Ter", "hgvsWellDefined": "NP_001136076.1:p.Trp83_Gly203delinsHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677588" }, { "@id": "http://reg.genome.network/allele/PA2828103389", "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.2:c.557G>A" ], "proteinEffect": { "hgvs": "NP_001350624.1:p.Trp186Ter", "hgvsWellDefined": "NP_001350624.1:p.Trp186_Gly282delinsHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690744" } ], "type": "nucleotide" }