HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001030025.1:p.[Leu1130Lys;Asn1132_Ser1137delinsArgAlaIleArgPheGln;Lys1139_Asn1143del;Pro1146_Leu1149del;Leu1151Ter] |
CA2693438868
NM_001034853.2:c.3388_3389del
|