HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Val498_Arg513delinsLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn515_Val527delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSer] |
CA1139666272
NM_000527.5:c.1492_1493del
|