Canonical Allele Identifier: PA2827187353
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2950136
ClinVar RCV Id: RCV003807494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Tyr433His
CA10360371
NM_001323289.2:c.1297T>C