Allele Registry

Canonical Allele Identifier: PA325657

Gene: FBN1 HGNC NCBI

ClinVar Allele:

38652

ClinVar RCV:

RCV000022545

RCV000255619

RCV001389174

RCV004018662

ClinVar Variation:

29697

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1762Ser	CA015740 NM_000138.5:c.5284G>A