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: PA2830053589

Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2923388

ClinVar RCV Id: RCV003780506

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Trp1604Cys	CA6711861 NM_025114.4:c.4812G>T CA241157320 NM_025114.4:c.4812G>C