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162, "geneSymbol": "AP1B1", "hgvs": [ "NM_001378564.1:c.2203G>T" ], "proteinEffect": { "hgvs": "NP_001365493.1:p.Glu735Ter", "hgvsWellDefined": "NP_001365493.1:p.Glu735_Asn889delinsIleSerLeuProLeuSerThrValGlySerValMetLysMetGluProLeuAsnAsnLeuGlnValAlaValLysAsnAsnIleAspValPheTyrPheSerThrLeuTyrProLeuHisIleLeuPheValGluAspGlyLysMetAspArgGlnMetPheLeuAlaThrTrpLysAspIleProAsnGluAsnGluAlaGlnPheGlnIleArgAspCysProLeuAsnAlaGluAlaAlaSerSerLysLeuGlnSerSerAsnIlePheThrValAlaLysArgAsnValGluGlyGlnAspMetLeuTyrGlnSerLeuLysLeuThrAsnGlyIleTrpValLeuAlaGluLeuArgIleGlnProGlyAsnProSerCysThrLeuSerLeuLysCysArgAlaProGluValSerGlnHisValTyrGlnAlaTyrGluThrIleLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721776" }, { "@id": "http://reg.genome.network/allele/PA2828784685", "coordinates": [ { "allele": "T", "end": 2421, "referenceAllele": "G", "start": 2420 } ], "gene": "http://reg.genome.network/gene/GN000554", "geneNCBI_id": 162, "geneSymbol": "AP1B1", "hgvs": [ "NM_001378565.1:c.2182G>T" ], "proteinEffect": { "hgvs": "NP_001365494.1:p.Glu728Ter", "hgvsWellDefined": "NP_001365494.1:p.Glu728_Asn885delinsIleSerLeuProLeuSerThrValGlySerValMetLysMetGluProLeuAsnAsnLeuGlnValAlaValLysAsnAsnIleAspValPheTyrPheSerThrLeuTyrProLeuHisIleLeuPheValGluAspGlyLysMetAspArgGlnMetPheLeuAlaThrTrpLysAspIleProAsnGluAsnGluAlaGlnPheGlnIleArgAspCysProLeuAsnAlaGluAlaAlaSerSerLysLeuGlnSerSerAsnIlePheThrValAlaLysArgAsnValGluGlyGlnAspMetLeuTyrGlnSerLeuLysLeuThrAsnGlyIleTrpValLeuAlaGluLeuArgIleGlnProGlyAsnProSerCysThrAspLeuGluLeuSerLeuLysCysArgAlaProGluValSerGlnHisValTyrGlnAlaTyrGluThrIleLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721777" }, { "@id": "http://reg.genome.network/allele/PA2828784735", "coordinates": [ { "allele": "T", "end": 2341, "referenceAllele": "G", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000554", "geneNCBI_id": 162, "geneSymbol": "AP1B1", "hgvs": [ "NM_001378566.1:c.2167G>T" ], "proteinEffect": { "hgvs": "NP_001365495.1:p.Glu723Ter", "hgvsWellDefined": "NP_001365495.1:p.Glu723_Asn877delinsIleSerLeuProLeuSerThrValGlySerValMetLysMetGluProLeuAsnAsnLeuGlnValAlaValLysAsnAsnIleAspValPheTyrPheSerThrLeuTyrProLeuHisIleLeuPheValGluAspGlyLysMetAspArgGlnMetPheLeuAlaThrTrpLysAspIleProAsnGluAsnGluAlaGlnPheGlnIleArgAspCysProLeuAsnAlaGluAlaAlaSerSerLysLeuGlnSerSerAsnIlePheThrValAlaLysArgAsnValGluGlyGlnAspMetLeuTyrGlnSerLeuLysLeuThrAsnGlyIleTrpValLeuAlaGluLeuArgIleGlnProGlyAsnProSerCysThrLeuSerLeuLysCysArgAlaProGluValSerGlnHisValTyrGlnAlaTyrGluThrIleLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721778" }, { "@id": "http://reg.genome.network/allele/PA2830294180", "coordinates": [ { "allele": "T", "end": 2527, "referenceAllele": "G", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN000554", "geneNCBI_id": 162, "geneSymbol": "AP1B1", "hgvs": [ "NM_145730.3:c.2353G>T" ], "proteinEffect": { "hgvs": "NP_663782.2:p.Glu785Ter", "hgvsWellDefined": "NP_663782.2:p.Glu785_Asn939delinsIleSerLeuProLeuSerThrValGlySerValMetLysMetGluProLeuAsnAsnLeuGlnValAlaValLysAsnAsnIleAspValPheTyrPheSerThrLeuTyrProLeuHisIleLeuPheValGluAspGlyLysMetAspArgGlnMetPheLeuAlaThrTrpLysAspIleProAsnGluAsnGluAlaGlnPheGlnIleArgAspCysProLeuAsnAlaGluAlaAlaSerSerLysLeuGlnSerSerAsnIlePheThrValAlaLysArgAsnValGluGlyGlnAspMetLeuTyrGlnSerLeuLysLeuThrAsnGlyIleTrpValLeuAlaGluLeuArgIleGlnProGlyAsnProSerCysThrLeuSerLeuLysCysArgAlaProGluValSerGlnHisValTyrGlnAlaTyrGluThrIleLeuLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729301" } ], "type": "nucleotide" }