HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000451.1:p.[Thr180del;Val182_Val189delinsSerGlyGlyProHisProProGln;Thr191_Asn193delinsSerProAla;Leu195del;Asn197_Gly201del;Leu203_Ala209del] |
CA2668833592
NM_000460.4:c.515_537dup
|