HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005160.2:p.[Pro47Arg;Cys49Ala;Ala51_Ala58delinsArgSerAlaProProThrAlaHis;Gly60_Gln66delinsAlaProTyrAlaThrThrSer;Ala68Arg;Tyr70_Val73delinsThrArgGlnCys;Tyr75del] |
CA2614940684
NM_005169.4:c.135del
|