HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000422567.2:p.[Gln467_Val468delinsArgTrp;Lys470_Asp474del;Ser477_Glu480delinsArgArgThrGln;Ser482_Asp485delinsAlaAlaAla;Glu487_Ala495delinsSerGlnThrValThrGluArgHisTrp;Gln496_Val497insPro] |
CA2573139298
ENST00000513538.2:c.1399del
|