HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000495537.1:p.[Leu1130Lys;Asn1132_Ser1137delinsArgAlaIleArgPheGln;Lys1139_Asn1143del;Pro1146_Leu1149del;Leu1151Ter] |
CA2693438868
ENST00000645032.1:c.3388_3389del
|