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"NP_000052.1:p.Trp588Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916016796", "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.1865G>A" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Trp622Ter", "hgvsWellDefined": "NP_001274273.1:p.Trp622_Ser693delinsGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742845", "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.1235G>A" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Trp412Ter", "hgvsWellDefined": "NP_001274274.1:p.Trp412_Ser483delinsGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }