HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000453513.2:p.[Val484_His488del;Phe490_Tyr492delinsSerCysSer;Thr494_Gly506delinsLeuHisVal;Asn508_Val510del;Ile512_Ser514del] |
CA16602332
ENST00000560467.2:c.1451_1452del
|