HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000417152.1:p.[Val19_Lys20delinsCysGln;Val22_Glu24delinsSerLeuGly;Thr26_Val27del;Thr29_Thr36delinsSerGlnHisArgArgLysCys;Gly38_Asn42delinsCysTyrThrTrp;Cys45_Thr49del] |
CA2534066
ENST00000494798.1:c.54dup
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