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: PA2826513892

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1346963

ClinVar RCV Id: RCV002032916

ClinVar Variation Id: 2699930

ClinVar RCV Id: RCV003498212

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257376.1:p.Val187Leu	CA397723018 NM_001270447.2:c.559G>C CA397723019 NM_001270447.2:c.559G>T