HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000293778.7:p.[Ile246_Pro247insTyrLeuTrpHisLeuThrLeuIle;Val248delinsGluProArgMetGlu;Pro250delinsCysGluGluThr;Ser252_Asn253insMetLeuProArgLeuLeuTrp;Thr254Ser] |
CA2244534191
ENST00000293778.12:c.737_738dup
|