HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000366977.1:p.Arg514_Ala543delinsAlaThrAlaTrpArgArgArgAlaAlaTrpSerThrCysAlaAlaCysCysAlaThrThrThrSerSerGlyProThrSerArgGlyArg |
CA2642977889
ENST00000377748.5:c.1540del
|