HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000509016.1:p.[Arg246Gly;Ser249_Pro257delinsAlaHisThrGluTrpThrAlaAspLeu;Met259_Ile261delinsTrpGln;Glu263del;Leu265_Tyr267delinsSerCysTrp;Val269_Pro274delinsThr] |
CA2731115102
ENST00000685763.1:c.732del
|