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"NP_000053.2:p.Ser318Ter", "hgvsWellDefined": "NP_000053.2:p.Ser318_Ala500delinsValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674682", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278407.9:c.953C>G" }, "RefSeq": { "hgvs": "NM_000062.3:c.953C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278407.4:p.Ser318Ter" }, "RefSeq": { "hgvs": "NP_000053.2:p.Ser318Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915957603", "coordinates": [ { "allele": "G", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_001032295.2:c.953C>G" ], "proteinEffect": { "hgvs": "NP_001027466.1:p.Ser318Ter", "hgvsWellDefined": "NP_001027466.1:p.Ser318_Ala500delinsValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675763" } ], "type": "nucleotide" }