HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000415840.2:p.[Ala114_Ile115del;Ala117_Gln122delinsHisArg;Glu124_Lys131delinsArgAlaAlaAspSerGlyArg;Ser133_Leu135delinsHisAsp;Ala137_Thr139del;Lys141_Gly143del] |
CA2611928216
ENST00000427721.2:c.340dup
|