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"http://reg.genome.network/allele/PA2499263214", "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_003073.4:c.364G>T" ], "proteinEffect": { "hgvs": "NP_003064.2:p.Glu122Ter", "hgvsWellDefined": 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541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001007468.3:c.337G>T" ], "proteinEffect": { "hgvs": "NP_001007469.1:p.Glu113Ter", "hgvsWellDefined": 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541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001317946.2:c.337G>T" ], "proteinEffect": { "hgvs": "NP_001304875.1:p.Glu113Ter", "hgvsWellDefined": 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