HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000417074.1:p.[Ser340_Asn365delinsTrpProProGluGluProAlaProValValGlnIleValArgArgGlnProProProTyrGlyAlaGluThrProThr;Asp367_Val369delinsThrLeuSer] |
CA2499216455
ENST00000487848.6:c.1019del
|