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: PA658830086

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 547186

ClinVar RCV Id: RCV000659288 RCV002536338

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Met448Ile	CA412360517 NM_003159.2:c.1344G>A CA412360518 NM_003159.2:c.1344G>C CA412360520 NM_003159.2:c.1344G>T