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: PA2825374596

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 592247

ClinVar RCV Id: RCV000727590 RCV001200831 RCV003489845

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001029031.1:p.Phe320Leu	CA397724186 NM_001033859.2:c.958T>C CA397724191 NM_001033859.2:c.960T>A CA397724192 NM_001033859.2:c.960T>G