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: PA2830025864

Gene: CFAP43 HGNC NCBI

Linked Data

ClinVar Variation Id: 3143467

ClinVar RCV Id: RCV004428836

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079421.5:p.Met1121Leu	CA5680320 NM_025145.7:c.3361A>T CA378091895 NM_025145.7:c.3361A>C