HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_542380.1:p.[Ile218_Asn222delinsMetThrPheAlaThr;Lys224Arg;Asn226Thr;Lys228_Phe240delinsArgMetLeuAlaSerArgHisLysSerAlaLysAlaSer;Glu242_Pro248delinsAsnTyrCysArgLeuCys] |
CA2122041960
NM_080649.3:c.654del
|