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"NP_001034937.1:p.Tyr127_Phe234delinsAlaGluCysGlyLeuArgIleLeuAlaPheProCysAsnGlnPheGlyLysGlnGluProGlySerAsnGluGluIleLysGluPheAlaAlaGlyTyrAsnValLysPheAspMetPheSerLysIleCysValAsnGlyAspAspAlaHisProLeuTrpLysTrpMetLysIleGlnProLysGlyLysGlyIleLeuGlyAsnAlaIleLysTrpAsnPheThrLysPheLeuIleAspLysAsnGlyCysValValLysArgTyrGlyProMetGluGluProLeuValIleGluLysAspLeuProHisTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663132" }, { "@id": "http://reg.genome.network/allele/PA2828274776", "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN004556", "geneNCBI_id": 2879, "geneSymbol": "GPX4", "hgvs": [ "NM_001367832.1:c.189C>A" ], "proteinEffect": { "hgvs": "NP_001354761.1:p.Tyr63Ter", "hgvsWellDefined": "NP_001354761.1:p.Tyr63_Phe170delinsAlaGluCysGlyLeuArgIleLeuAlaPheProCysAsnGlnPheGlyLysGlnGluProGlySerAsnGluGluIleLysGluPheAlaAlaGlyTyrAsnValLysPheAspMetPheSerLysIleCysValAsnGlyAspAspAlaHisProLeuTrpLysTrpMetLysIleGlnProLysGlyLysGlyIleLeuGlyAsnAlaIleLysTrpAsnPheThrLysPheLeuIleAspLysAsnGlyCysValValLysArgTyrGlyProMetGluGluProLeuValIleGluLysAspLeuProHisTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664874" }, { "@id": "http://reg.genome.network/allele/PA645414982", "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN004556", "geneNCBI_id": 2879, "geneSymbol": "GPX4", "hgvs": [ "NM_002085.5:c.270C>A" ], "proteinEffect": { "hgvs": "NP_002076.2:p.Tyr90Ter", "hgvsWellDefined": "NP_002076.2:p.Tyr90_Phe197delinsAlaGluCysGlyLeuArgIleLeuAlaPheProCysAsnGlnPheGlyLysGlnGluProGlySerAsnGluGluIleLysGluPheAlaAlaGlyTyrAsnValLysPheAspMetPheSerLysIleCysValAsnGlyAspAspAlaHisProLeuTrpLysTrpMetLysIleGlnProLysGlyLysGlyIleLeuGlyAsnAlaIleLysTrpAsnPheThrLysPheLeuIleAspLysAsnGlyCysValValLysArgTyrGlyProMetGluGluProLeuValIleGluLysAspLeuProHisTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665338", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354171.13:c.270C>A" }, "RefSeq": { "hgvs": "NM_002085.5:c.270C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346103.7:p.Tyr90Ter" }, "RefSeq": { "hgvs": "NP_002076.2:p.Tyr90Ter" } } } } ], "type": "nucleotide" }