Allele Registry

Canonical Allele Identifier: PA658800543

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001181544

RCV001591387

RCV002477357

RCV002531822

RCV004002731

ClinVar Variation:

519796

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe692Tyr	CA269548916 NM_000138.5:c.2075T>A