HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000454071.1:p.[Gln349del;Arg351_Cys352del;Ile355_Cys364delinsAlaLysIleSerMet;Gln366_Gln378delinsValArgIleProThrProAlaAlaSerSerAla] |
CA10585265
ENST00000558518.6:c.1046del
|