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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.[Ser528_Asn534delinsLeuGluGluIleThr;Gly536_Ser540delinsMetArgGlu;Arg542Trp;Thr544_Pro557delinsHisValGluProGlnProAspIleLeuArgArgTrpArgAsn]
CA2579562929
XM_011545569.1:c.1582del
CA2819902221
XM_011545569.1:c.1583del