Allele Registry

Canonical Allele Identifier: PA658800609

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631974

RCV000757280

RCV004003817

ClinVar Variation:

527187

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys993Arg	CA392329308 NM_000138.5:c.2977T>C