Canonical Allele Identifier: PA2827187035
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143772
ClinVar RCV Id: RCV000133319 RCV000145514
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Lys42Arg
CA171606
NM_001323289.2:c.125A>G