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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.[Gln298_Gln300delinsPheLysPro;Leu302_Asn327delinsAspPheTrpIleValLeuLeuGlnGlyGlnGlnLysGluAsnLeuThrMetTrpLysAlaAlaHisCysLeuIleGlu]
CA2695231295
NM_001323289.2:c.890_891dup