Canonical Allele Identifier: PA2827187433
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 962204
ClinVar RCV Id: RCV001236017

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg558His
CA10360404
NM_001323289.2:c.1673G>A