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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.[Thr494_Ser499delinsGluAsnPheAlaGln;Ser501_Ser521delinsPheTrpLys;Thr523del]
CA2580615397
XM_011545570.1:c.1480_1481del