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}, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "G", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.246C>G" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Tyr82Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1093C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1093C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1093C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA658803264", "coordinates": [ { "allele": "G", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.468C>G" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Tyr156Ter", "hgvsWellDefined": "NP_000446.1:p.Tyr156_Gln433delinsPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.468C>G" }, "RefSeq": { "hgvs": "NM_000455.5:c.468C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Tyr156Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Tyr156Ter" } } } } ], "type": "nucleotide" }