HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000320709.2:p.[Asn192_Tyr216delinsIleMetTrpThrArgProProAlaLeuCysSerCysIleTrpArgTrpAlaThrLysSerGlySerArgCysMet;Glu218_Arg221delinsLysGluSerVal] |
CA548797875
ENST00000320741.7:c.575del
|