Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825380380

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707940

ClinVar RCV Id: RCV002287101 RCV003774950

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032420.1:p.Ser630Arg	CA412363648 NM_001037343.2:c.1888A>C CA412363681 NM_001037343.2:c.1890C>A CA412363683 NM_001037343.2:c.1890C>G