HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000359248.1:p.[Phe488_Ile498delinsProTrpThrAlaLysHisGln;Thr500_Val505delinsCysAsnArg;Val507_Ile510delinsAsnAlaThr;His512_Asn517delinsSerLeuArgLeu] |
CA323294
ENST00000370228.2:c.1462_1463del
|