HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000309595.2:p.[His489_Ile498delinsProTrpThrAlaLysHisGln;Thr500_Val505delinsCysAsnArg;Val507_Ile510delinsAsnAlaThr;His512_Asn517delinsSerLeuArgLeu] |
CA595644175
ENST00000311916.8:c.1463dup
|