HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000394863.4:p.[Asn217_Leu221del;Lys223_Ile234delinsProAspGlyProGluGlu;Asp236_Val238delinsCys;Ser240Gly;Trp242_Tyr246delinsIleProGln] |
CA16040727
ENST00000433473.8:c.650dup
|