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"referenceSequence": "http://reg.genome.network/refseq/RS582465" }, { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN029101", "geneNCBI_id": 23141, "geneSymbol": "ANKLE2", "hgvs": [ "XR_001748638.1:n.1792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596624" }, { "@id": "http://reg.genome.network/allele/PA1139732417", "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "C", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN029101", "geneNCBI_id": 23141, "geneSymbol": "ANKLE2", "hgvs": [ "NM_015114.3:c.1870C>T" ], "proteinEffect": { "hgvs": "NP_055929.1:p.Arg624Ter", "hgvsWellDefined": "NP_055929.1:p.Arg624_Leu938delinsAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668644", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357997.10:c.1870C>T" }, "RefSeq": { "hgvs": "NM_015114.3:c.1870C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350686.5:p.Arg624Ter" }, "RefSeq": { "hgvs": "NP_055929.1:p.Arg624Ter" } } } } ], "type": "nucleotide" }