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: PA1139702628

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948093

ClinVar RCV Id: RCV001219280 RCV002322060

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004351.1:p.Phe110Leu	CA396457397 NM_004360.5:c.328T>C CA396457402 NM_004360.5:c.330T>A CA396457403 NM_004360.5:c.330T>G