Canonical Allele Identifier: PA2573228123
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1361557
ClinVar RCV Id: RCV001911835
ClinVar Variation Id: 2952557
ClinVar RCV Id: RCV003817691

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Arg563Ser
CA412362267
NM_003159.2:c.1689A>C
CA412362268
NM_003159.2:c.1689A>T