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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489879.1:p.[Gln336_Ser337del;His339_Asn348del;Ser350_Ala356delinsThrThr;Glu358_Gly359del;Pro361Thr;Asn363_Glu364delinsArgThr;Phe366delinsArgThr]
CA1139667242
ENST00000637881.1:c.1008del