Canonical Allele Identifier: PA2827187475
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711701
ClinVar RCV Id: RCV002293215
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg617His
CA412363246
NM_001323289.2:c.1850G>A