HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000512376.1:p.[Leu192Pro;Pro194_Val216delinsAlaTrpThrCysProGlyLeuProGlyCysGluGluArgHisSerProTyrCysProArgArgGlyGly;Ser218_Val221delinsLeuGlyArgSer] |
CA9871626
ENST00000696077.1:c.574dup
|