Canonical Allele Identifier: PA2827187402
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143778
ClinVar RCV Id: RCV000133325 RCV000862218 RCV001567263 RCV002281060 RCV002390298 RCV004532617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ile508Thr
CA170449
NM_001323289.2:c.1523T>C