Allele Registry

Canonical Allele Identifier: PA645406580

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000464985

RCV001188148

RCV004000733

ClinVar Variation:

406302

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2776Gln	CA059942 NM_000138.5:c.8327G>A