HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252444.6:p.[Ser238_Ile247delinsThrSerSerAlaThrAlaProProAlaSer;Gln249_Asp256delinsSerCysGlyProAlaThrThrThr;Asp258_Pro267delinsThrAlaLysMetAlaArgMetSerGlyArg] |
CA2573050572
ENST00000252444.10:c.713del
|