HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000115.1:p.[Ser1183_Thr1195del;Glu1197Phe;His1199_Pro1202delinsAsn;Gln1204_Asn1208delinsThr;Lys1210_Cys1212del] |
CA593780447
NM_000124.4:c.3546_3547insCTTT
|