Canonical Allele Identifier: PA2827187012
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2268191
ClinVar RCV Id: RCV002809357

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Glu21Asp
CA412489616
NM_001323289.2:c.63A>C
CA412489617
NM_001323289.2:c.63A>T