HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000416000.2:p.[Leu331Cys;Leu333del;Arg335_Ile336delinsAla;His338_Ser340delinsSerGlyThr;Ser342_Tyr348delinsAlaProValThrThrValGln;Ser350_Gln360delinsThrAlaArgTrpMetArgSerIleThrGlyIleAsn] |
CA2585308213
ENST00000457836.6:c.990del
|