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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.[Ser724_Ser733delinsGlnArgAlaValLeuGluProThrThrGln;Arg735_Trp742delinsAspAsnGlnHisSerIleHisGly;Ser744_Asn747delinsValLeuLys;Ser749_Gln753delinsLeuValIleGlnSer]
CA2579563002
XM_011545569.1:c.2169del