Canonical Allele Identifier: PA2827187439
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_001310218.1:p.Arg563Ser
CA412362267
NM_001323289.2:c.1689A>C
CA412362268
NM_001323289.2:c.1689A>T