HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000453513.2:p.[Val458_Arg473delinsLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn475_Val487delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSer] |
CA1139666272
ENST00000560467.2:c.1372_1373del
|