HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514570.1:p.[Asn517_His524del;Val526_Gln530delinsSer;Leu532_Gln536delinsCysCysSerSer;Leu538_Ala546delinsProCysSerArgGlyArgGlySer] |
CA046679
ENST00000699762.1:c.1550del
|