HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361187.1:p.[Val499Gly;Gln501_Lys513delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp516_Asp519del;Val522_Thr528delinsTrp] |
CA2580077584
NM_001374258.1:c.1495dup
|