HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000494389.1:p.[Phe488_Ile498delinsProTrpThrAlaLysHisGln;Thr500_Val505delinsCysAsnArg;Val507_Ile510delinsAsnAlaThr;His512_Asn517delinsSerLeuArgLeu] |
CA323294
ENST00000643860.1:c.1462_1463del
|