HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000443112.1:p.[Val627_Leu642delinsCysCysThrArgAlaGlnThrProAlaMetAlaArgAlaThrCysCysHis;Ser644_His646delinsThrThrAla;Val648_Gln656delinsSerArgProSerSerProProArg] |
CA2573051042
ENST00000541395.5:c.1879del
|