HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001365381.1:p.[Glu2240Arg;Asp2242del;Gln2244_Ser2246delinsThrAsn;Ile2248_Asp2257delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2259_Gln2265delinsLysThrSerSerMet;Lys2267_Arg2269del] |
CA645535844
NM_001378452.1:c.6717_6718insAG
|