HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001120959.1:p.[Ile2117_Gly2118del;Thr2120_Val2135delinsAlaAlaProValThrSerThrSerArgSerGlnGluThrGly;Ala2137_Arg2140delinsArgTrpCys;Thr2142Pro;Thr2144_Thr2146delinsSerAla] |
CA891842998
NM_001127487.2:c.6348del
|