HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005174.2:p.[Ile997_Thr1007delinsMetAspHisArgLysHisHisAspCysHisHis;Leu1009_Ile1017delinsSerAlaIleTyrValArgLeuHisArg;Val1019_Gln1020delinsAlaAla;Phe1022_Lys1023delinsGln;Lys1025_Tyr1027delinsGluIleLeu] |
CA2579607624
NM_005183.3:c.2991_2992del
|