HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000469769.1:p.[Leu6_Leu17delinsProTyrGlyThrGlnSerThrThrAspProCysSer;Ala19_Glu33delinsThrThrSerCysSerSerSerTrpThrAsnProCysPro] |
CA2586648226
ENST00000593885.1:c.9_12del
|