HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000497217.1:p.[Ala225Trp;Ala227_Ala228delinsGlyAsp;Ala230Gly;Ala232_Gly237delinsProGluArgAspGluPro;Pro239_Val245delinsArg;Gly247_Leu248delinsArg;Gly250_Thr259delinsGlu;Val261del;Ser263_Met264delinsLeuGln;Leu266_Pro268delinsArg;Val271_Asn275delinsGln;Leu277_Pro288del;Pro290_His312delinsArg;Ala314_Pro319delinsGln;Gln321_Pro341del;Leu343_Pro351del;Leu353_Met356del;Cys358_Lys366delinsArgArg;Gly368Ter] |