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"gene": "http://reg.genome.network/gene/GN003467", "geneNCBI_id": 2099, "geneSymbol": "ESR1", "hgvs": [ "NM_001385568.1:c.993T>A" ], "proteinEffect": { "hgvs": "NP_001372497.1:p.Tyr331Ter", "hgvsWellDefined": 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"NP_001372500.1:p.Tyr331Ter", "hgvsWellDefined": "NP_001372500.1:p.Tyr331_Ala466delinsAspProThrArgProPheSerGluAlaSerMetMetGlyLeuLeuThrAsnLeuAlaAspArgGluLeuValHisMetIleAsnTrpAlaLysArgValProGlyPheValAspLeuThrLeuHisAspGlnValHisLeuLeuGluCysAlaTrpLeuGluIleLeuMetIleGlyLeuValTrpArgSerMetGluHisProGlyLysLeuLeuPheAlaProAsnLeuLeuLeuAspArgAsnGlnGlyLysCysValGluGlyMetValGluIlePheAspMetLeuLeuAlaThrSerSerArgPheArgMetMetAsnLeuGlnGlyGluGluPheValCysLeuLysSerIleIleLeuLeuAsnSerValThrLysAlaTrpSerIleCysThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723892" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "T", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN003467", "geneNCBI_id": 2099, "geneSymbol": "ESR1", "hgvs": [ "NM_001385572.1:c.993T>A" ], "proteinEffect": { "hgvs": "NP_001372501.1:p.Tyr331Ter", "hgvsWellDefined": "NP_001372501.1:p.Tyr331_Ala466delinsAspProThrArgProPheSerGluAlaSerMetMetGlyLeuLeuThrAsnLeuAlaAspArgGluLeuValHisMetIleAsnTrpAlaLysArgValProGlyPheValAspLeuThrLeuHisAspGlnValHisLeuLeuGluCysAlaTrpLeuGluIleLeuMetIleGlyLeuValTrpArgSerMetGluHisProGlyLysLeuLeuPheAlaProAsnLeuLeuLeuAspArgAsnGlnGlyLysCysValGluGlyMetValGluIlePheAspMetLeuLeuAlaThrSerSerArgPheArgMetMetAsnLeuGlnGlyGluGluPheValCysLeuLysSerIleIleLeuLeuAsnSerValThrLysAlaTrpSerIleCysThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS723893" } ], "type": "nucleotide" }