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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501174.1:p.[Ala935_Gly938delinsLysHisThrGln;Pro940_Leu942delinsThrGluGly;Leu944delinsAlaSer;Gly946_Pro950delinsProAlaAlaArgSerAsp;Trp952_Ser956delinsSerTrpLeuAlaCys;Thr958_Glu963delinsLeuCysAspGlnGluCysHisArg]
CA2819912966
ENST00000674046.1:c.2802_2803insAAACACACCCAAC