Allele Registry

Canonical Allele Identifier: PA093521

Gene: MEFV HGNC NCBI

ClinVar RCV:

RCV000002654

RCV000508324

RCV002262545

RCV003106758

RCV003230343

RCV003466786

ClinVar Variation:

2545

2414425

HGVS (amino-acid)	Matching Registered Transcripts
NP_000234.1:p.Phe479Leu	CA280103 NM_000243.3:c.1437C>G CA7860129 NM_000243.3:c.1437C>A CA394464447 NM_000243.3:c.1435T>C CA658760339 NM_000243.3:c.[1437C>G;501G>C]