Canonical Allele Identifier: PA2827187390
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156642
ClinVar RCV Id: RCV000169974 RCV000766721 RCV001405417 RCV002260621 RCV004544327
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ala486_Lys487del
CA199357
NM_001323289.2:c.1455_1460del