HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500186.2:p.[Lys99Asn;Tyr101_Gln115delinsIleLeuArgMetLeuLysArgSerTrpPheArgArgSer;Leu117_Asp128delinsAsnIleTyrSerSerTyrArg] |
CA514191642
ENST00000673312.2:c.294del
|