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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543871.1:p.[Thr414_Leu417delinsLysValProGlnVal;Ser419_Asn420delinsGlnGlnIle;Arg422_Arg427delinsAlaGluProProLeuIle;Ser429_Glu432delinsGlyLysLeu;Ser434Lys;Lys437_Leu441delinsTrpAspThrAlaAla;Pro443_Asn444del]
CA2695231310
XM_011545569.1:c.1241_1242del