HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000366533.1:p.[Asn516_Ser518delinsThrArg;Ile520_Gln527delinsProSer;Gln529_Val537delinsCysAsn;Thr539_Pro540delinsArgHis;Asp542_Leu545delinsArgLysCysArg] |
CA2580084408
ENST00000377316.6:c.1545del
|