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"http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_001379352.1:c.769C>T" ], "proteinEffect": { "hgvs": "NP_001366281.1:p.Arg257Ter", "hgvsWellDefined": "NP_001366281.1:p.Arg257_Gln426delinsProGlyGlySerSerLeuSerIleGlnThrAlaAsnProGlyAsnHisValGluIleGlnAlaAlaTyrIleGlyThrThrIleIleIleArgGlnThrAlaGlyGlnLeuSerPheSerIleLysValAlaGluAspValAlaMetAlaPheSerAlaGluGlnAspLeuGlnLeuCysValGlyGlyCysProProSerGlnArgLeuSerArgSerGluArgAsnArgArgGlyAlaIleThrIleAspThrAlaArgArgLeuCysLysGluGlyLeuProValGluAspAlaTyrPheHisSerCysValPheAspValLeuIleSerGlyAspProAsnPheThrValAlaAlaGlnAlaAlaLeuGluAspAlaArgAlaPheLeuProAspLeuGluLysLeuHisLeuPheProSerAspAlaGlyValProLeuSerSerAlaThrLeuLeuAlaProLeuLeuSerGlyLeuPheValLeuTrpLeuCysIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721973" }, { "@id": "http://reg.genome.network/allele/PA2830527763", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN004887", "geneNCBI_id": 148738, "geneSymbol": "HJV", "hgvs": [ "NM_213653.4:c.769C>T" ], "proteinEffect": { "hgvs": "NP_998818.1:p.Arg257Ter", "hgvsWellDefined": "NP_998818.1:p.Arg257_Gln426delinsProGlyGlySerSerLeuSerIleGlnThrAlaAsnProGlyAsnHisValGluIleGlnAlaAlaTyrIleGlyThrThrIleIleIleArgGlnThrAlaGlyGlnLeuSerPheSerIleLysValAlaGluAspValAlaMetAlaPheSerAlaGluGlnAspLeuGlnLeuCysValGlyGlyCysProProSerGlnArgLeuSerArgSerGluArgAsnArgArgGlyAlaIleThrIleAspThrAlaArgArgLeuCysLysGluGlyLeuProValGluAspAlaTyrPheHisSerCysValPheAspValLeuIleSerGlyAspProAsnPheThrValAlaAlaGlnAlaAlaLeuGluAspAlaArgAlaPheLeuProAspLeuGluLysLeuHisLeuPheProSerAspAlaGlyValProLeuSerSerAlaThrLeuLeuAlaProLeuLeuSerGlyLeuPheValLeuTrpLeuCysIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS730158", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336751.11:c.769C>T" }, "RefSeq": { "hgvs": "NM_213653.4:c.769C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337014.5:p.Arg257Ter" }, "RefSeq": { "hgvs": "NP_998818.1:p.Arg257Ter" } } } } ], "type": "nucleotide" }