HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000414946.2:p.[Arg739del;Ala741_Asn742delinsLeu;Asp744_Glu745del;Gly747_Asp751delinsProMetLysLeu;Asn753Ile;Lys755_Ser768delinsLeuMetLysIle] |
CA2695223570
ENST00000422392.6:c.2216del
|