Allele Registry

Canonical Allele Identifier: PA345806

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000143890

RCV001201373

ClinVar Variation:

155791

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys499Tyr	CA012213 NM_000138.5:c.1496G>A