HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000326570.4:p.[Asn463_Phe473delinsThrThrThrAlaAlaSerTrpSerSerSerSer;Val477_Asn480delinsSerSerArgThr;Gln482_Tyr483delinsSerThr;Asn485_Thr492delinsThrArgHisCys] |
CA2576826111
ENST00000318584.9:c.1388del
|