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"nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.1138C>T" }, "RefSeq": { "hgvs": "NM_000018.4:c.1138C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Gln380Ter" }, "RefSeq": { "hgvs": "NP_000009.1:p.Gln380Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825374660", "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.1072C>T" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Gln358Ter", "hgvsWellDefined": 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"NP_001257377.1:p.Gln304_Phe579delinsGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }