Canonical Allele Identifier: PA2827187332
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2130676
ClinVar RCV Id: RCV003044649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Asp396Glu
CA10360362
NM_001323289.2:c.1188T>A
CA412359851
NM_001323289.2:c.1188T>G