Allele Registry

Canonical Allele Identifier: PA658690661

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000590010

RCV001058020

RCV002245999

RCV002286762

RCV003224806

ClinVar Variation:

495574

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr746Cys	CA16602231 NM_000138.5:c.2237A>G