HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000397829.2:p.[Cys172Ala;Asp174_Asp192delinsThrAlaSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp194del;Cys196_Val201delinsProAlaAlaSerSerAla] |
CA645617881
ENST00000455727.6:c.513del
|