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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.[Val18_Val19insGlu;Gly20Lys;Gly22_His32delinsProMetGluLeuTyrLeuAsnAlaAspThrArg;Glu34_Glu48delinsHisMetLysLeuTrpArgSerArgAsnSerArgThrValLys]
CA2579562665
NM_001323289.2:c.56del