HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000457.1:p.[Ile700_Met702delinsTyrLeuHis;Ser704_Thr711delinsLysPheGlyCysThrAspCysHisLys;Gln713Val;Gln715_Gln716delinsAlaIle;Leu718_His729delinsThrSerPheThrCysPheCysSerArgSerSer] |
CA213121
NM_000466.3:c.2097dup
|