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"http://reg.genome.network/refseq/RS009971" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "T", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN037234", "geneNCBI_id": 79583, "geneSymbol": "TMEM231", "hgvs": [ "NR_074083.1:n.89T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052720" }, { "@id": "http://reg.genome.network/allele/PA130592", "coordinates": [ { "allele": "A", "end": 55, "referenceAllele": "T", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN037234", "geneNCBI_id": 79583, "geneSymbol": "TMEM231", "hgvs": [ "NM_001077418.3:c.12T>A" ], "proteinEffect": { "hgvs": "NP_001070886.1:p.Tyr4Ter", "hgvsWellDefined": "NP_001070886.1:p.Tyr4_Ser316delinsGluLeuPheSerHisProValGluArgSerTyrArgAlaGlyLeuCysSerLysAlaAlaLeuPheLeuLeuLeuAlaAlaAlaLeuThrTyrIleProProLeuLeuValAlaPheArgSerHisGlyPheTrpLeuLysArgSerSerTyrGluGluGlnProThrValArgPheGlnHisGlnValLeuLeuValAlaLeuLeuGlyProGluSerAspGlyPheLeuAlaTrpSerThrPheProAlaPheAsnArgLeuGlnGlyAspArgLeuArgValProLeuValSerThrArgGluGluAspArgAsnGlnAspGlyLysThrAspMetLeuHisPheLysLeuGluLeuProLeuGlnSerThrGluHisValLeuGlyValGlnLeuIleLeuThrPheSerTyrArgLeuHisArgMetAlaThrLeuValMetGlnSerMetAlaPheLeuGlnSerSerPheProValProGlySerGlnLeuTyrValAsnGlyAspLeuArgLeuGlnGlnLysGlnProLeuSerCysGlyGlyLeuAspAlaArgTyrAsnIleSerValIleAsnGlyThrSerProPheAlaTyrAspTyrAspLeuThrHisIleValAlaAlaTyrGlnGluArgAsnValThrThrValLeuAsnAspProAsnProIleTrpLeuValGlyArgAlaAlaAspAlaProPheValIleAsnAlaIleIleArgTyrProValGluValIleSerTyrGlnProGlyPheTrpGluMetValLysPheAlaTrpValGlnTyrValSerIleLeuLeuIlePheLeuTrpValPheGluArgIleLysIlePheValPheGlnAsnGlnValValThrThrIleProValThrValThrProArgGlyAspLeuCysLysGluHisLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258173.11:c.12T>A" }, "RefSeq": { "hgvs": "NM_001077418.3:c.12T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258173.5:p.Tyr4Ter" }, "RefSeq": { "hgvs": "NP_001070886.1:p.Tyr4Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 55, "referenceAllele": "T", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN037234", "geneNCBI_id": 79583, "geneSymbol": "TMEM231", "hgvs": [ "NR_074083.2:n.55T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702796" } ], "type": "nucleotide" }