Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2825380348

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 464810

ClinVar RCV Id: RCV000547851

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032420.1:p.Met577Ile	CA10360412 NM_001037343.2:c.1731G>T CA412362468 NM_001037343.2:c.1731G>A CA412362469 NM_001037343.2:c.1731G>C