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], "proteinEffect": { "hgvs": "NP_000017.1:p.Glu277Ter", "hgvsWellDefined": "NP_000017.1:p.Glu277_Leu484delinsMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.829G>T" }, "RefSeq": { "hgvs": "NM_000026.4:c.829G>T" } }, "protein": { 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"proteinEffect": { "hgvs": "NP_001116850.1:p.Glu277Ter", "hgvsWellDefined": "NP_001116850.1:p.Glu277_Leu425delinsMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972271", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "G", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.637G>T" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Glu213Ter", "hgvsWellDefined": "NP_001304852.1:p.Glu213_Leu420delinsMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA2499253069", "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ 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"geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.888G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }