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: PA658800049

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 541715

ClinVar RCV Id: RCV000652032 RCV000786080

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000009.1:p.Glu643Asp	CA397726201 NM_000018.4:c.1929G>C CA397726202 NM_000018.4:c.1929G>T