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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.[Lys415_Arg422delinsSerThrSerSerGlnThrAlaAspLeu;Gln424_Arg427delinsArgThrAlaThr;Phe430_Ser436delinsTrpLysAlaLeuLysAla;Ala438Leu;Thr440_Gln442delinsHisCysSer;Asn444Met]
CA2695231311
XM_011545569.1:c.1244del