HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_057502.2:p.[Lys99Asn;Tyr101_Gln115delinsIleLeuArgMetLeuLysArgSerTrpPheArgArgSer;Leu117_Asp128delinsAsnIleTyrSerSerTyrArg] |
CA514191642
NM_016418.5:c.294del
|