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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543872.1:p.[Pro696_Ser706delinsHisGlnArgAlaValLeuGluProThrThrGln;Arg708_Trp715delinsAspAsnGlnHisSerIleHisGly;Ser717_Asn720delinsValLeuLys;Ser722_Glu725delinsLeuValIleGln]
CA645620504
XM_011545570.1:c.2085del