HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001336795.1:p.[Ile438_Ile446delinsHisProAlaProHisArgHisArg;Lys448_Ser450del;Val452_Asp456del;Phe458_Ala462delinsGlyCysGlyHisGln;Thr464_Gly468delinsProVal] |
CA2573158184
NM_001349866.2:c.1312_1316del
|