Allele Registry

Canonical Allele Identifier: PA658690146

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000587808

RCV000769657

ClinVar Variation:

495662

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys304Tyr	CA392350265 NM_000138.5:c.911G>A