HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.1:p.[Thr18His;Ser20_Ser33delinsGlnThrTyrGlyAsnTyrPheLeuLysThrThrPheCysPro;Leu35delinsCysArg;Ser37Lys;Ala39Trp;Asp41_Pro47delinsIle] |
CA10580965
ENST00000503591.1:c.52del
|