HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501295.1:p.[His679Arg;Arg681_Thr682delinsIle;Leu684del;Ser686His;Ala688_Lys692delinsTrpGlyLeuGlnLeu;Val694Thr;His696_Ser700delinsAsnGluTrpAspThrLeuHis;Ser702_Lys705delinsGlnArgProAla;Gly706_Val707insLys;Trp708delinsSerGly] |
CA526260861
ENST00000674043.1:c.2031_2035dup
|