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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.[Ser624_Gln626delinsProAlaThr;Leu628_Ser629delinsValThr;Gln631_Ser651delinsAlaTrpArgThrAlaProSerArgAspAspCysGlyLysIlePheGlyGlnArgAspLeuGln;Glu653Arg]
CA658825121
XM_011545569.1:c.1870_1871del