Canonical Allele Identifier: PA093547
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11497
ClinVar RCV Id: RCV000012252 RCV000133372
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Arg175Ser
CA121517
NM_001037343.2:c.525A>T
CA412352458
NM_001037343.2:c.525A>C