Allele Registry

Canonical Allele Identifier: PA658660740

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000551753

RCV000663641

RCV004023770

ClinVar Variation:

457194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1153Tyr	CA269531142 NM_000138.5:c.3458G>A