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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369325.3:p.[Ser641_Gln643delinsProAlaThr;Leu645_Ser646delinsValThr;Gln648_Ser668delinsAlaTrpArgThrAlaProSerArgAspAspCysGlyLysIlePheGlyGlnArgAspLeuGln;Glu670Arg]
CA658825121
ENST00000379989.6:c.1921_1922del