HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004691.2:p.[Arg43_Ser50delinsProAlaSerAlaSerTrpAlaAla;Leu52_Ala56delinsCysArgArgAlaArg;Leu58_Pro59delinsSerLeu;Pro61_Arg72delinsArgAlaProAlaArgAlaProProAlaAlaSerAla] |
CA2574332630
NM_004700.4:c.128del
|