HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361203.1:p.Ala194_Ter195insTyrSerSerLeuPheProProGlnIleProAlaArgThrTrpAspLeuGluAspSerLysGluGlyGlyProGlyLeuProGlyAlaGlyLeuLeuCysLeuValMetThrProGluGlnGlnLeuGlyArgAsnLeuLysSerThrIleTrpLeuGlyGluAlaGlyValGlyPheSerGlnMetProLeuHisAlaAspGlyThrGlyGlySerProProPheSerThrSerThrLeuHisLeuSerCysGluLeuGluThrSerPheProArgCysProCysProLeuArgSerProLeuTrpProArgProTrpValLeuHisCysValSerSerThrGluAspLeuArgThrSerGlyGlyProGlyProGlyThrProAlaProAlaArgMetThrAlaSerValCysHisValProGlyCysAspGlyProLeuGlyThrGlyProCysProIleHisProLeuGluAlaTrpHisArgProAlaSerLeuIleProAsnLeuThrProLysLeuTrpGlyValThrTyrLys |
CA370315896
NM_001374274.1:c.585A>C
CA370315897
NM_001374274.1:c.585A>T
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