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"ENST00000279146.8:c.218G>A" }, "RefSeq": { "hgvs": "NM_003977.4:c.218G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Trp73Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Trp73Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826875868", "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.2:c.218G>A" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Trp73Ter", "hgvsWellDefined": "NP_001289889.1:p.Trp73_Gly283delinsGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" }, { "@id": "http://reg.genome.network/allele/PA2826875222", "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Trp14Ter", "hgvsWellDefined": "NP_001289888.1:p.Trp14_His271delinsGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717004" } ], "type": "nucleotide" }