HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000376250.3:p.[Lys183_Leu188delinsThrArgThrSerThrGly;Asn190del;Glu192_Gly212delinsGlyArgAlaArgThrThrLeuPheIleGluGluIleProValIleLeu] |
CA89778651
ENST00000392456.3:c.546_547del
|