HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001335143.1:p.[Ala199_Gly216delinsLeuPheGlyLeuGluMetGluAspArgProHisArgLeuLeuIleMetLysAsp;Leu218_Ser220delinsTyrThr;Gln222_Arg228delinsCysLysAlaGluLeuLysIle] |
CA2695223156
NM_001348214.2:c.594del
|