HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377997.4:p.[Ser519Pro;Lys521_Pro528delinsAsnArgAsnTyr;Ser530_Ala532delinsIle;Leu534_Thr537del;Asn539_Gln548delinsValVal] |
CA2691423530
ENST00000394487.5:c.1555del
|