| HGVS (amino-acid) | Matching Registered Transcripts | 
|---|---|
| ENSP00000515294.1:p.Cys44Ser | 
                     
                       CA381232543
                       
                    
                        ENST00000530993.6:c.130T>A
                       
                    
                       CA381232546
                       
              
                        ENST00000530993.6:c.131G>C
                       
                     |