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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369325.3:p.[Gln633Lys;Met635_Leu645delinsTrpGlnLeuGluProThrAlaCysAsn;Pro647_Gln648delinsCysHis;Gly650_Gln652delinsSer;Pro654_Ala660delinsGluAsnSerSerLeuGln;Ser663del]
CA2573158476
ENST00000379989.6:c.1896del