HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001116079.1:p.[His58del;Gly60_Ser67delinsThrArgAlaSerTrpCysAla;Asn69_Cys72delinsThrAlaProThr;Val74_Leu75delinsSerAla;Thr77_Trp79delinsCysCysLeu;Cys81_Lys83delinsThrGlyAlaAla;Leu85Arg;Ile87delinsCysProSer] |
CA915940742
NM_001122607.2:c.171_172dup
|