Allele Registry

Canonical Allele Identifier: PA658690590

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000588202

RCV002420559

ClinVar Variation:

495572

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys711Arg	CA392336329 NM_000138.5:c.2131T>C