HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000423862.2:p.[Asn117Glu;Phe119_Ser122delinsLeuPheAspIle;Val124_Met144delinsTrpTrpCysProMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn146Val] |
CA2695223084
ENST00000514944.6:c.347_348dup
|