HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000539.2:p.[Arg1751His;Arg1753_Glu1757delinsAlaAlaProPro;Ala1759_Ser1764delinsAspLeuArgGlySerArg;Pro1766del;Val1768_Pro1770delinsGlnProGln;Ser1772_His1773delinsThr;Lys1775Gly;Ala1778_Gln1779delinsSerValPro] |
CA2631118696
NM_000548.5:c.5237_5249dup
|