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"http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "G", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.1528G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "G", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.1528G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA2825004185", "coordinates": [ { "allele": "T", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.1567G>T" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Gly523Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "NP_001257376.1:p.Gly546Ter", "hgvsWellDefined": "NP_001257376.1:p.Gly546_Phe678delinsLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "@id": "http://reg.genome.network/allele/PA2826516745", "coordinates": [ { "allele": "T", "end": 1689, "referenceAllele": "G", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.1339G>T" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Gly447Ter", "hgvsWellDefined": "NP_001257377.1:p.Gly447_Phe579delinsLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }