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"NP_000633.2:p.Cys1425_Leu1532delinsGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.4275T>A" }, "RefSeq": { "hgvs": "NM_000642.3:c.4275T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Cys1425Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Cys1425Ter" } } } } ], "type": "nucleotide" }