Canonical Allele Identifier: PA2827187573
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707143
ClinVar RCV Id: RCV002286059 RCV003333214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Thr792Arg
CA412364028
NM_001323289.2:c.2375C>G