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"CYB5R3", "hgvs": [ "NM_007326.4:c.181C>T" ], "proteinEffect": { "hgvs": "NP_015565.1:p.Arg61Ter", "hgvsWellDefined": "NP_015565.1:p.Arg61_Phe278delinsIleAspGlyAsnLeuValValArgProTyrThrProIleSerSerAspAspAspLysGlyPheValAspLeuValIleLysValTyrPheLysAspThrHisProLysPheProAlaGlyGlyLysMetSerGlnTyrLeuGluSerMetGlnIleGlyAspThrIleGluPheArgGlyProSerGlyLeuLeuValTyrGlnGlyLysGlyLysPheAlaIleArgProAspLysLysSerAsnProIleIleArgThrValLysSerValGlyMetIleAlaGlyGlyThrGlyIleThrProMetLeuGlnValIleArgAlaIleMetLysAspProAspAspHisThrValCysHisLeuLeuPheAlaAsnGlnThrGluLysAspIleLeuLeuArgProGluLeuGluGluLeuArgAsnLysHisSerAlaArgPheLysLeuTrpTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032229" }, { "@id": "http://reg.genome.network/allele/PA645448818", "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN002873", "geneNCBI_id": 1727, "geneSymbol": "CYB5R3", "hgvs": [ "NM_000398.7:c.250C>T" ], "proteinEffect": { "hgvs": "NP_000389.1:p.Arg84Ter", "hgvsWellDefined": "NP_000389.1:p.Arg84_Phe301delinsIleAspGlyAsnLeuValValArgProTyrThrProIleSerSerAspAspAspLysGlyPheValAspLeuValIleLysValTyrPheLysAspThrHisProLysPheProAlaGlyGlyLysMetSerGlnTyrLeuGluSerMetGlnIleGlyAspThrIleGluPheArgGlyProSerGlyLeuLeuValTyrGlnGlyLysGlyLysPheAlaIleArgProAspLysLysSerAsnProIleIleArgThrValLysSerValGlyMetIleAlaGlyGlyThrGlyIleThrProMetLeuGlnValIleArgAlaIleMetLysAspProAspAspHisThrValCysHisLeuLeuPheAlaAsnGlnThrGluLysAspIleLeuLeuArgProGluLeuGluGluLeuArgAsnLysHisSerAlaArgPheLysLeuTrpTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662427", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352397.10:c.250C>T" }, "RefSeq": { "hgvs": "NM_000398.7:c.250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338461.6:p.Arg84Ter" }, "RefSeq": { "hgvs": "NP_000389.1:p.Arg84Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826088031", "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN002873", "geneNCBI_id": 1727, "geneSymbol": "CYB5R3", "hgvs": [ "NM_001171660.2:c.349C>T" ], "proteinEffect": { "hgvs": "NP_001165131.1:p.Arg117Ter", "hgvsWellDefined": "NP_001165131.1:p.Arg117_Phe334delinsIleAspGlyAsnLeuValValArgProTyrThrProIleSerSerAspAspAspLysGlyPheValAspLeuValIleLysValTyrPheLysAspThrHisProLysPheProAlaGlyGlyLysMetSerGlnTyrLeuGluSerMetGlnIleGlyAspThrIleGluPheArgGlyProSerGlyLeuLeuValTyrGlnGlyLysGlyLysPheAlaIleArgProAspLysLysSerAsnProIleIleArgThrValLysSerValGlyMetIleAlaGlyGlyThrGlyIleThrProMetLeuGlnValIleArgAlaIleMetLysAspProAspAspHisThrValCysHisLeuLeuPheAlaAsnGlnThrGluLysAspIleLeuLeuArgProGluLeuGluGluLeuArgAsnLysHisSerAlaArgPheLysLeuTrpTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713381" } ], "type": "nucleotide" }