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: PA2826958875

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142040

ClinVar RCV Id: RCV000130841 RCV000554536 RCV001800438 RCV003328219

ClinVar Variation Id: 406646

ClinVar RCV Id: RCV000464249 RCV002446797 RCV003477948 RCV003328347

ClinVar Variation Id: 491524

ClinVar RCV Id: RCV000581517

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304113.1:p.Phe75Leu	CA167218 NM_001317184.2:c.223T>C CA8129813 NM_001317184.2:c.225C>A CA8129814 NM_001317184.2:c.225C>G