HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514750.1:p.[Glu546Gly;Glu548_Ser552delinsArg;His554_Thr555del;Ala557_Cys561delinsPhe;Val563_Thr565delinsTrpProTyr;Leu567_Phe575delinsCysIleTrpCysValLeuCys] |
CA916079928
ENST00000700002.1:c.1636dup
|