HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000459119.2:p.[Ser233_Leu242delinsProLeuLeuTrpArgArgAlaThrSerCys;Asp244_Phe262delinsMetAlaArgSerSerProLeuAlaMetSerGlySerGlyValArgArgArgCys] |
CA2576423408
ENST00000575659.6:c.696del
|