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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543871.1:p.[Thr511_Thr514delinsProAlaGlnPro;Thr516_Asp520delinsProAspThrVal;Thr523Glu;Leu525Cys;Pro527_Ser540delinsAlaLeuLeuGluGluIleThrGluMetArgGluArgTrpThr]
CA2695231302
XM_011545569.1:c.1530del