HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000505339.1:p.[Lys2141_Asp2145del;Lys2147_Ser2158del;Val2160_Leu2163del;Ser2165_His2167delinsPheHisCys;Tyr2169_Asp2172delinsArg;Ala2174_Pro2182delinsHisGln;Gln2184_Gln2185delinsGluTrp;Pro2187_Gly2196del;Pro2198_Asn2208delinsArg;Ala2211_Lys2212delinsVal;Glu2214_Met2215del;Leu2218_Phe2226del;Thr2228_Pro2231del;Leu2233_Ser2234del;Leu2236_Ser2240del;Thr2242_Gly2252del;Leu2254_Cys2268del;Trp2270_Val2279del;Asn2281del] |