HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001257376.1:p.[Ala248_Val256delinsGlnProProSerGluProLeuLeuCys;Ser258Ala;Cys260_Asn275delinsValGluAsnThrIleProSerMetGluAlaSerPheGlySerValMet;Gly277Ala] |
CA2635781754
NM_001270447.2:c.742del
|