HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001171604.1:p.[Ala17Gly;Gly19Trp;Thr21_Ala22delinsAspCys;Ala25delinsGlyLeuArg;Ser28del;Phe30Ser;Pro32_Arg43delinsGlyThrAlaArgHisLeuArgArgValProProPro;Tyr45Pro] |
CA2610694422
NM_001178133.2:c.47dup
|