HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000299.3:p.[Arg48_Leu54delinsProSerThrProAlaThrSer;Gly56_Asp72delinsAlaProAlaProSerThrSerThrThrGlyLeuTrpSerProArgArgIle;Glu74_Pro77delinsArgThrAlaLeu] |
CA2580098230
NM_000308.4:c.143del
|