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: PA2826230936

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_001185892.1:p.Ser142Arg	CA374331975 NM_001198963.2:c.424A>C CA374331978 NM_001198963.2:c.426T>A CA374331979 NM_001198963.2:c.426T>G