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"A", "end": 2792, "referenceAllele": "G", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.2772G>A" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Trp924Ter", "hgvsWellDefined": "NP_000284.1:p.Trp924_Ser1093delinsLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.2772G>A" }, "RefSeq": { "hgvs": "NM_000293.3:c.2772G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Trp924Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Trp924Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825357315", "coordinates": [ { "allele": "A", "end": 2904, "referenceAllele": "G", "start": 2903 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.2751G>A" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Trp917Ter", "hgvsWellDefined": "NP_001027005.1:p.Trp917_Ser1086delinsLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }