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: PA2499229037

Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1004896

ClinVar RCV Id: RCV002384360 RCV002539479

ClinVar Variation Id: 1310008

ClinVar RCV Id: RCV001757076 RCV004040199

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000134.2:p.Met449Ile	CA1478473 NM_000143.4:c.1347G>C CA40327539 NM_000143.4:c.1347G>A CA345436467 NM_000143.4:c.1347G>T