HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_919224.1:p.[Ala1377_Glu1381delinsArgArgArgArgArg;Lys1383_Ser1391delinsLeuArgAlaLeuAlaLeuAlaArg;Gln1393_Ala1397delinsProArgPro;Glu1399_Lys1402delinsArgArgArgAsn;Lys1404_Glu1407delinsArgLeuMetSer;Lys1409Arg] |
CA2586968801
NM_194248.3:c.4129_4138del
|