Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA098112

Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686572

ClinVar RCV Id: RCV002247085

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000075.1:p.Phe273Leu	CA413185034 NM_000084.5:c.817T>C CA413185039 NM_000084.5:c.819T>A CA413185040 NM_000084.5:c.819T>G