Allele Registry

Canonical Allele Identifier: PA645405671

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000476381

RCV001095722

RCV001181376

RCV001753875

RCV002502618

ClinVar Variation:

406289

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ser1861Asn	CA055263 NM_000138.5:c.5582G>A