HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001139133.1:p.[His448_Leu453delinsThrProAspThrSerCys;Thr455_Thr457delinsLeuArgArg;Ile459_His460delinsSerThr;Ser462_Leu465delinsProProAla;Phe467_His471delinsProSerAlaThr;Ser473_Thr477delinsThrArgProAlaTrp] |
CA2577890672
NM_001145661.2:c.1342del
|