HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_002213.5:p.[Glu2177Arg;Asp2179del;Gln2181_Ser2183delinsThrAsn;Ile2185_Asp2194delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2196_Gln2202delinsLysThrSerSerMet;Lys2204_Arg2206del] |
CA645535844
NM_002222.7:c.6528_6529insAG
|