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

Canonical Allele Identifier: PA1139741463

Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 854549

ClinVar RCV Id: RCV003649358 RCV004031889

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341825.1:p.Met2382Ile	CA16036777 NM_001354896.2:c.7146G>A CA16036778 NM_001354896.2:c.7146G>C CA16036779 NM_001354896.2:c.7146G>T