HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Ala226_Val233delinsProProSerGluProLeuLeuCys;Ser235Ala;Cys237_Ile250delinsValGluAsnThrIleProSerMetGluAlaSerPheGly;Asn252_Gly253delinsValMet;Leu255Ala] |
CA1139665141
NM_000018.4:c.676del
|