Allele Registry

Canonical Allele Identifier: PA126539

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017929

ClinVar Variation:

16465

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1086Tyr	CA013941 NM_000138.5:c.3257G>A