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: PA093531

Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 97503

ClinVar RCV Id: RCV000083755 RCV002483162 RCV003126458 RCV003126457 RCV003133133

ClinVar Variation Id: 234449

ClinVar RCV Id: RCV000214222 RCV001833229

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000234.1:p.Phe743Leu	CA280550 NM_000243.3:c.2229C>G CA10577516 NM_000243.3:c.2227T>C CA394485100 NM_000243.3:c.2229C>A