HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438689.2:p.[Ala248_Val256delinsGlnProProSerGluProLeuLeuCys;Ser258Ala;Cys260_Asn275delinsValGluAsnThrIleProSerMetGluAlaSerPheGlySerValMet;Gly277Ala] |
CA2635781754
ENST00000543245.6:c.742del
|