Canonical Allele Identifier: PA170482
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143810
ClinVar RCV Id: RCV000133358 RCV001089711 RCV002055856
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Arg923Cys
CA170481
NM_003159.2:c.2767C>T