Canonical Allele Identifier: PA2827187054
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143791
ClinVar RCV Id: RCV000133338 RCV000145527 RCV001849962
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Leu67Phe
CA170464
NM_001323289.2:c.199C>T