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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.[His728_Ser750delinsMetLysIleMetCysGlnLeuGluPheLeuLeuTyrHisGlnArgAlaValLeuGluProThrThrGln;Arg752_Asp757delinsAspAsnGlnHisSerIle]
CA916083846
NM_003159.2:c.2182del