| HGVS (amino-acid) | Matching Registered Transcripts | 
|---|---|
| NP_000521.2:p.Cys50Ser | 
                     
                       CA343351199
                       
                    
                        NM_000530.7:c.149G>C
                       
                    
                       CA343351208
                       
              
                        NM_000530.7:c.148T>A
                       
                     |