Allele Registry

Canonical Allele Identifier: PA281666

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017893

RCV000524502

RCV001170530

RCV001836710

ClinVar Variation:

16431

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2144Ser	CA016451 NM_000138.5:c.6431A>G