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: PA2826689150

Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134032

ClinVar RCV Id: RCV003044729

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001271245.1:p.Ser233Arg	CA8238236 NM_001284316.2:c.699C>G CA397148245 NM_001284316.2:c.697A>C CA397148251 NM_001284316.2:c.699C>A