HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001116079.1:p.[Leu117_Met124del;Asn126_Ala129delinsCysTyr;Phe131_Val137delinsSerHisGluGluPro;Arg139_Gly143delinsCys;Ser145_Thr147delinsIle] |
CA2737753333
NM_001122607.2:c.349_353del
|