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: PA245880

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 197617

ClinVar RCV Id: RCV000178701 RCV001852220

ClinVar Variation Id: 1009183

ClinVar RCV Id: RCV001306639

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000009.1:p.Gln98His	CA245879 NM_000018.4:c.294G>C CA397722524 NM_000018.4:c.294G>T