Canonical Allele Identifier: PA121530
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 18450

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Arg178Pro
CA121529
NM_003159.2:c.533G>C