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173 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000493905.6:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000476935.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000476935.1:p.Gln57_Cys222delinsGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysSerSerThrLeuPheGlySerIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS330958" }, { "@id": "http://reg.genome.network/allele/PA352871", "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.169C>T" }, "RefSeq": { "hgvs": "NM_000169.3:c.169C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Gln57Ter" }, "RefSeq": { "hgvs": "NP_000160.1:p.Gln57Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NR_164783.1:n.191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705867" } ], "type": "nucleotide" }