Canonical Allele Identifier: PA2827187303
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156681

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Val351Ile
CA294747
NM_001323289.2:c.1051G>A