Allele Registry

Canonical Allele Identifier: PA645404141

Gene: FBN1 HGNC NCBI

ClinVar Allele:

373562

ClinVar RCV:

RCV000443014

RCV000631988

RCV000663479

ClinVar Variation:

381611

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys557Tyr	CA16606733 NM_000138.5:c.1670G>A