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: PA1139689870

Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957128

ClinVar RCV Id: RCV001230055 RCV001780164

ClinVar Variation Id: 1709983

ClinVar RCV Id: RCV002290325

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Phe306Leu	CA369641617 NM_000083.3:c.916T>C CA369641622 NM_000083.3:c.918C>A CA369641623 NM_000083.3:c.918C>G