HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000320.1:p.[Gly494_Gln497delinsArgSerArgThr;Pro499del;Tyr501Cys;Leu503_Lys508delinsSerPro;Leu510del;Val513_Ile522delinsCysGlnGlyLeuLys] |
CA1173557456
NM_000329.3:c.1478dup
|