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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501174.1:p.[Ser545_Asn551delinsLeuGluGluIleThr;Gly553_Ser557delinsMetArgGlu;Arg559Trp;Thr561_Pro574delinsHisValGluProGlnProAspIleLeuArgArgTrpArgAsn]
CA2579562929
ENST00000674046.1:c.1633del
CA2819902221
ENST00000674046.1:c.1634del