HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501257.1:p.[Ser470_His472del;Cys475_His477delinsThrLeuPro;Pro479_Val499delinsAlaMetProGlnValTrpAsnAlaLysSerArgSerMetGluSerArgProLeuArgSerArg] |
CA2586966704
ENST00000673903.1:c.1407del
|