Canonical Allele Identifier: PA645375091
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 393097
ClinVar RCV Id: RCV000437063 RCV001055079 RCV003168709
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Leu644Phe
CA16608795
NM_003159.2:c.1930C>T