Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2573164283

Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 1275822

ClinVar RCV Id: RCV001849196 RCV002496007 RCV003451845 RCV003451847 RCV003451844 RCV003451846

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000177.2:p.Ile453Leu	CA343981589 NM_000186.4:c.1357A>C CA343981591 NM_000186.4:c.1357A>T