HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496632.1:p.[Asn340_Arg347delinsLysHisCysLeuValSerGluAla;Thr349_Leu352delinsAspHisProVal;Lys354_Ala368delinsGlnValSerCysTyrArgGlyThrArgArgAspSerHisHisCysHis] |
CA2693737105
ENST00000642885.1:c.1016dup
|