HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000417725.1:p.[Leu83_Arg88delinsPheGluValSerLysLys;Ala91_Gln104delinsGlySerArgAsnPheSerSerValValSerValGlnGlu;Asp106_Leu112delinsGly] |
CA2695232748
ENST00000493412.1:c.248dup
|