Canonical Allele Identifier: PA2827187566
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439886
ClinVar RCV Id: RCV003144786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gly778Arg
CA412363615
NM_001323289.2:c.2332G>A
CA412363622
NM_001323289.2:c.2332G>C