Allele Registry

Canonical Allele Identifier: PA280557

Gene: MEFV HGNC NCBI

ClinVar RCV:

RCV000083757

RCV000520754

RCV001000179

RCV002498441

RCV003126459

RCV003126460

ClinVar Variation:

97505

HGVS (amino-acid)	Matching Registered Transcripts
NP_000234.1:p.Ser749Cys	CA280555 NM_000243.3:c.2246C>G