Canonical Allele Identifier: PA2827187538
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004575
ClinVar RCV Id: RCV001301300
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Asp724Val
CA412367902
NM_001323289.2:c.2171A>T