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"ENST00000367535.8:c.1099C>T" }, "RefSeq": { "hgvs": "NM_000433.4:c.1099C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356505.4:p.Gln367Ter" }, "RefSeq": { "hgvs": "NP_000424.2:p.Gln367Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741834350", "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001127651.3:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_001121123.1:p.Gln367Ter", "hgvsWellDefined": "NP_001121123.1:p.Gln367_Val526delinsProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676922" }, { "@id": "http://reg.genome.network/allele/PA2826164380", "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190789.2:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001177718.1:p.Gln286Ter", "hgvsWellDefined": "NP_001177718.1:p.Gln286_Val445delinsProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713677" }, { "@id": "http://reg.genome.network/allele/PA2826164674", "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "C", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190794.2:c.964C>T" ], "proteinEffect": { "hgvs": "NP_001177723.1:p.Gln322Ter", "hgvsWellDefined": "NP_001177723.1:p.Gln322_Val481delinsProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713678" } ], "type": "nucleotide" }