HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000348537.5:p.[Leu684_Ser688delinsTrpThrSerThrPro;Ser690Ala;Asp693_Ser701delinsThrProGlyAlaLeuArgAlaProGln;Glu703_Leu712delinsArgIleProSerSerLeuMetSerArgCys] |
CA2717012132
ENST00000356207.9:c.2050del
|