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: PA2826966529

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216594

ClinVar RCV Id: RCV000196588 RCV002426951

ClinVar Variation Id: 2775047

ClinVar RCV Id: RCV003585095

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304115.1:p.Phe178Leu	CA336541 NM_001317186.2:c.532T>C CA396472171 NM_001317186.2:c.534T>A CA396472173 NM_001317186.2:c.534T>G