Allele Registry

Canonical Allele Identifier: PA1139675937

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001202784

RCV004017803

ClinVar Variation:

934403

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1928Arg	CA16602236 NM_000138.5:c.5782T>C