Canonical Allele Identifier: PA2827187261
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 422272
ClinVar RCV Id: RCV000481012 RCV001244046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg285Lys
CA16621272
NM_001323289.2:c.854G>A