HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000439625.1:p.Arg516_Ala545delinsAlaThrAlaTrpArgArgArgAlaAlaTrpSerThrCysAlaAlaCysCysAlaThrThrThrSerSerGlyProThrSerArgGlyArg |
CA2642977889
ENST00000537245.5:c.1546del
|