Canonical Allele Identifier: PA2827187174
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 18450
ClinVar RCV Id: RCV000012262 RCV001035195
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg178Pro
CA121529
NM_001323289.2:c.533G>C