Allele Registry

Canonical Allele Identifier: PA658800665

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632000

ClinVar Variation:

527200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1348Trp	CA392320490 NM_000138.5:c.4044T>G