Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA645475176

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 324992

ClinVar RCV Id: RCV000311336 RCV001551430

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000009.1:p.His335Gln	CA8337925 NM_000018.4:c.1005C>A CA397724146 NM_000018.4:c.1005C>G