HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000320646.4:p.[His496del;Ser498_Ile499del;Asp501_Val502delinsPro;Val504_Asp509delinsSerGln;Thr511del;Gly513_Thr521del;Arg523_Gly525del] |
CA980394045
ENST00000317447.8:c.1485_1486dup
|