HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361173.1:p.[Val499Ala;Gln501_Lys513delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp516_Asp519del;Val522_Thr528delinsTrp] |
CA2580077583
NM_001374244.1:c.1495_1496insC
|