| HGVS (amino-acid) | Matching Registered Transcripts | 
|---|---|
| NP_000383.2:p.Val1188Glu | 
                       CA5643849
                       
                        NM_000392.5:c.3563T>A
                       
                       CA2697558686
                       
                        NM_000392.5:c.3563_3564delinsAA
                       |