Canonical Allele Identifier: PA2827187352
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434662
ClinVar RCV Id: RCV000504427 RCV001507063 RCV002524164
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Lys432_Tyr433delinsAsn
CA645373290
NM_001323289.2:c.1296_1298del