HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Ala225_Val233delinsGlnProProSerGluProLeuLeuCys;Ser235Ala;Cys237_Asn252delinsValGluAsnThrIleProSerMetGluAlaSerPheGlySerValMet;Gly254Ala] |
CA2635781754
NM_000018.4:c.673del
|