HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000046.1:p.[Leu17_Met21delinsPheCysSerAlaCys;Ile23Leu;Lys25del;Thr28_Asp31del;Ile33_Thr36delinsLeu;Asn38_Gly43del;Asn45_Leu46delinsThrSer] |
CA2668432414
NM_000055.4:c.48del
|