HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000309845.7:p.[Lys185delinsGlnVal;Val187Ala;Ser189delinsLeuThrGlnHisLysLeuArgThrTrpArgCysArgMetGlnGluGlyGlyAlaAspGlyArgArgArgLysGlu] |
CA658797554
ENST00000311189.8:c.552dup
|