HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001098713.1:p.[His452Thr;Ser454_Lys455delinsProSer;Tyr457_Asn466delinsThrThrArgSerLeuCysArgArgThr;Pro468_Gly469delinsArgLeu;Tyr471_Leu473delinsProIleCys;Val475_Asp481delinsLeuCysLeuLeuAlaThrPro] |
CA2573159042
NM_001105243.2:c.1353del
|