HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000240.1:p.[Leu724_Arg725insCysSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGlu;Arg725_Ser726insCysLeu] |
CA2742038356
NM_000249.4:c.[2173C>T;2174G>T]
|