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: PA2826958844

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491519

ClinVar RCV Id: RCV000581916

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304113.1:p.Phe69Leu	CA396457159 NM_001317184.2:c.205T>C CA396457163 NM_001317184.2:c.207T>A CA396457164 NM_001317184.2:c.207T>G