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"NP_001289889.1:p.Gln126_Gly283delinsMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" }, { "@id": "http://reg.genome.network/allele/PA2741854377", "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.2:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Gln67Ter", "hgvsWellDefined": "NP_001289888.1:p.Gln67_His271delinsMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717004" } ], "type": "nucleotide" }