Canonical Allele Identifier: PA2499263434
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254860

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Ser582Phe
CA412362544
NM_003159.2:c.1745C>T