Canonical Allele Identifier: PA093567
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 18450
ClinVar RCV Id: RCV000012262 RCV001035195
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Arg178Pro
CA121529
NM_001037343.2:c.533G>C