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: PA2827611910

Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2089208

ClinVar RCV Id: RCV003012033

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338426.1:p.Ser119Arg	CA374331975 NM_001351497.2:c.355A>C CA374331978 NM_001351497.2:c.357T>A CA374331979 NM_001351497.2:c.357T>G