Allele Registry

Canonical Allele Identifier: PA281670

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017895

RCV002426510

RCV003764583

ClinVar Variation:

16433

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp723Ala	CA012833 NM_000138.5:c.2168A>C