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: PA2826516731

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1330697

ClinVar RCV Id: RCV001802356 RCV003230697

ClinVar Variation Id: 1509950

ClinVar RCV Id: RCV002042935

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257377.1:p.Gly438Arg	CA8338151 NM_001270448.2:c.1312G>A CA397725337 NM_001270448.2:c.1312G>C