HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000475991.2:p.[Thr239_Val240del;Met242_Arg246del;Thr248His;Thr250_Ser253del;Lys255del;Trp257_Leu261delinsPro;Ala263_Ser269delinsAsnSerAspGln] |
CA2580083656
ENST00000538950.5:c.716_717del
|