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: PA2825459221

Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 459217

ClinVar RCV Id: RCV000546620 RCV004023803

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073270.1:p.Ser352Arg	CA5170566 NM_001079802.2:c.1054A>C CA5170567 NM_001079802.2:c.1056C>G CA374377716 NM_001079802.2:c.1056C>A