HGVS (amino-acid) | Matching Registered Transcripts |
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XP_011542752.1:p.[Glu513_Ala517delinsSerThrCys;Arg519del;Pro521Gly;Leu523_Tyr527delinsProGlnGlyTrp;Pro529_Asn532delinsThrAlaThrThr;Glu534_Glu535delinsAlaThrThr;Leu537Arg;Lys540_Leu542delinsSerProProArgThrTrp] |
CA16609401
XM_011544450.2:c.1537del
|