Canonical Allele Identifier: PA2827187648
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2923556
ClinVar RCV Id: RCV003783114

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gln902His
CA412368242
NM_001323289.2:c.2706G>C
CA412368244
NM_001323289.2:c.2706G>T