HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000247.2:p.[Lys1209del;Lys1211_Trp1214delinsGlnAlaGlnAsp;Lys1216_Leu1221delinsLeuValGlnGluTrpPro;Glu1223_Ala1225delinsProGlyArg;Phe1227_Lys1232delinsArgProLeuProHisVal;Gln1233_Gly1234insGlnAla;Gly1234_Val1235insSer;Leu1236_Thr1237delinsAspSer] |
CA2573051241
NM_000256.3:c.3620_3623dup
|