Canonical Allele Identifier: PA2827187426
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1578921
ClinVar RCV Id: RCV002090856 RCV002290848 RCV003438938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg539Thr
CA412361970
NM_001323289.2:c.1616G>C