HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000475524.2:p.[Arg48_Leu54delinsProSerThrProAlaThrSer;Gly56_Asp72delinsAlaProAlaProSerThrSerThrThrGlyLeuTrpSerProArgArgIle;Glu74_Pro77delinsArgThrAlaLeu] |
CA2580098230
ENST00000607482.6:c.143del
|