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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2826963635

Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486828

ClinVar RCV Id: RCV001859986 RCV000572512

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001304113.1:p.Met814Ile	CA396472815 NM_001317184.2:c.2442G>A CA396472818 NM_001317184.2:c.2442G>T CA396472822 NM_001317184.2:c.2442G>C