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"RefSeq": { "hgvs": "NP_005129.2:p.Gln53Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA117674", "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "C", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169109.2:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001162580.1:p.Gln53Ter", "hgvsWellDefined": 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"NM_001169111.2:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001162582.1:p.Gln53Ter", "hgvsWellDefined": "NP_001162582.1:p.Gln53_Ser266delinsGlyProGlyLeuArgThrArgLeuLeuIleThrGlyLeuPheGlyAlaGlyLeuGlyGlyAlaTrpLeuAlaLeuArgAlaGluLysGluArgLeuGlnGlnGlnLysArgThrGluAlaLeuArgGlnAlaAlaValGlyGlnGlyAspPheHisLeuLeuAspHisArgGlyArgAlaArgCysLysAlaAspPheArgGlyGlnTrpValLeuMetTyrPheGlyPheThrHisCysProAspIleCysProAspGluLeuGluLysLeuValGlnValValArgGlnLeuGluAlaGluProGlyLeuProProValGlnProValPheIleThrValAspProGluArgAspAspValGluAlaMetAlaArgTyrValGlnAspPheHisProArgLeuLeuGlyLeuThrGlySerThrLysGlnValAlaGlnAlaSerHisSerTyrArgValTyrTyrAsnAlaGlyProLysAspGluAspGlnAspTyrIleValAspHisSerIleAlaIleTyrLeuLeuAsnProAspGlyLeuPheThrAspTyrTyrGlyArgSerArgSerAlaGluGlnIleSerAspSerValArgArgHisMetAlaAlaPheArgSerValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713305" } ], "type": "nucleotide" }