HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000288602.7:p.[Val499Ala;Gln501_Lys513delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp516_Asp519del;Val522_Thr528delinsTrp] |
CA2580077583
ENST00000288602.11:c.1495_1496insC
|