HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001157284.1:p.[His489_Ile498delinsProTrpThrAlaLysHisGln;Thr500_Val505delinsCysAsnArg;Val507_Ile510delinsAsnAlaThr;His512_Asn517delinsSerLeuArgLeu] |
CA595644175
NM_001163812.2:c.1463dup
|