HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000439721.2:p.[Val417_Leu432delinsCysCysThrArgAlaGlnThrProAlaMetAlaArgAlaThrCysCysHis;Ser434_His436delinsThrThrAla;Val438_Gln446delinsSerArgProSerSerProProArg] |
CA2573051042
ENST00000543427.5:c.1249del
|