HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000478688.1:p.[Leu244_Met250delinsProPheProGlyPheTyrLysArgSerSerSerGluHisTyrTyrLeuHis;Arg252_Asn255delinsGlnSerSerGln;Cys257_Lys259delinsLeuCys] |
CA2579754002
ENST00000617423.4:c.700_730dup
|