Allele Registry

Canonical Allele Identifier: PA280363

Gene: MEFV HGNC NCBI

ClinVar Allele:

103320

ClinVar RCV:

RCV000083679

RCV000417776

RCV000755567

RCV002262629

ClinVar Variation:

97428

HGVS (amino-acid)	Matching Registered Transcripts
NP_000234.1:p.Arg348His	CA280361 NM_000243.3:c.1043G>A