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"referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.556G>A" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Ala186Thr", "hgvsWellDefined": "NP_003910.1:p.Ala186Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.556G>A" }, "RefSeq": { "hgvs": "NM_003919.3:c.556G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Ala186Thr" }, "RefSeq": { "hgvs": "NP_003910.1:p.Ala186Thr" } } } } ], "type": "nucleotide" }