HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001839.2:p.[Lys334del;Glu336_Met337del;Tyr339_Pro340delinsAsp;Leu342Val;Gly344_Ser348delinsArg;Gly350_Ile354delinsAlaArgLeu;Pro357_Asp363delinsLeuAlaArgVal] |
CA2517465707
NM_001848.3:c.1000_1001del
|