HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_060483.3:p.[Ile539Ser;Ile541_Lys550delinsSerLeuSerLeuThrSerAlaThrProSer;Asn553Thr;Phe555_Asn558delinsSerProAlaThr;Glu560_Ala566delinsArgThrSerPheArgThr;Gly568Leu] |
CA2679876741
NM_018013.4:c.1614del
|