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"nucleotide": { "Ensembl": { "hgvs": "ENST00000357749.7:c.1342C>T" }, "RefSeq": { "hgvs": "NM_000390.4:c.1342C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350386.2:p.Gln448Ter" }, "RefSeq": { "hgvs": "NP_000381.1:p.Gln448Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828062669", "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN001940", "geneNCBI_id": 1121, "geneSymbol": "CHM", "hgvs": [ "NM_001362518.2:c.898C>T" ], "proteinEffect": { "hgvs": "NP_001349447.1:p.Gln300Ter", "hgvsWellDefined": "NP_001349447.1:p.Gln300_Glu505delinsTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690508" } ], "type": "nucleotide" }