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"end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.901C>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gln301Ter", "hgvsWellDefined": 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"end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.148C>T" ], "proteinEffect": { "hgvs": "XP_016863652.1:p.Gln50Ter", "hgvsWellDefined": 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