Allele Registry

Canonical Allele Identifier: PA645404065

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000423905

RCV000663462

RCV000792027

ClinVar Variation:

381612

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys494Tyr	CA16606737 NM_000138.5:c.1481G>A