HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000330875.3:p.[Gln130_Ser141delinsProArgGluProGlyProProCysProPro;His144_Asn149delinsCys;Tyr151_Asn156delinsAlaHisAlaAla;Glu159delinsTrpLeu] |
CA2521117772
ENST00000327470.6:c.388dup
|