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: PA645382991

Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393574

ClinVar RCV Id: RCV000445614 RCV000494229 RCV000489286

ClinVar Variation Id: 405925

ClinVar RCV Id: RCV002525542

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000134.2:p.Gly275Arg	CA16609366 NM_000143.4:c.823G>C CA16610104 NM_000143.4:c.823G>A