Canonical Allele Identifier: PA2825380250
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099556
ClinVar RCV Id: RCV003023062

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Thr431Ala
CA412360297
NM_001037343.2:c.1291A>G