Canonical Allele Identifier: PA2825380540
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1701032
ClinVar RCV Id: RCV002275896 RCV002300674 RCV002466282 RCV003774883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Pro895Leu
CA294762
NM_001037343.2:c.2684C>T