HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000349597.4:p.[Glu2192Arg;Asp2194del;Gln2196_Ser2198delinsThrAsn;Ile2200_Asp2209delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2211_Gln2217delinsLysThrSerSerMet;Lys2219_Arg2221del] |
CA645535844
ENST00000357086.9:c.6573_6574insAG
|