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"coordinates": [ { "allele": "", "end": 517, "referenceAllele": "CT", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN010805", "geneNCBI_id": 6442, "geneSymbol": "SGCA", "hgvs": [ "NM_001135697.3:c.480_481del" ], "proteinEffect": { "hgvs": "NP_001129169.1:p.Leu161GlyfsTer29", "hgvsWellDefined": "NP_001129169.1:p.[Leu161Gly;Gly163Thr;Trp165_Ala178delinsGlyAlaArgArgAlaSerAlaAlaGlnArgHisLeuCys;Asp180_Gly182delinsGlyProTrp;Arg184_Val185delinsProCys;Leu187del;Ile189_Glu190delinsSerHis]" }, "referenceSequence": "http://reg.genome.network/refseq/RS677331" }, { "coordinates": [ { "allele": "", "end": 517, "referenceAllele": "CT", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN010805", "geneNCBI_id": 6442, "geneSymbol": "SGCA", "hgvs": [ "NR_135553.2:n.516_517del" ], "referenceSequence": "http://reg.genome.network/refseq/RS703679" } ], "type": "nucleotide" }