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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.[Leu316del;Ala318_Phe322del;Asn324_Ser333del;Leu335_Thr337delinsMet;Thr339_Gln341del;Ser344_Gln345del]
CA170436
XM_011545570.1:c.947del