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: PA2829122371

Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1465422

ClinVar RCV Id: RCV001963701

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373608.1:p.Met290Ile	CA6263397 NM_001386679.1:c.870G>A CA382508697 NM_001386679.1:c.870G>C CA382508698 NM_001386679.1:c.870G>T