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: PA2825004342

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1707710

ClinVar RCV Id: RCV002286689

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000009.1:p.Phe655_Ter656insCysIleLeuProAlaArgAlaCysProSerTyrValProSerLeuLysProLysProLysProLeuSerLeuArgProTrpPheValProLysGlyProSerValProSerThrValProAlaLeuLysSerThrTyrCysLeuAlaAsnAsnLysAsnPhe	CA397726277 NM_000018.4:c.1968A>C CA397726279 NM_000018.4:c.1968A>T