HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001008657.1:p.[Ala494_Pro499delinsGlySerGlyGluAla;Lys502_Ser503delinsGluLys;Gln505_Met512delinsProGlyGluThrCysLeuTyrHis;Met514His;Pro516Ala;Lys519_Gly522delinsGluArgArgArg;Val524Ser] |
CA2695205453
NM_001008657.3:c.1481_1482del
|