Allele Registry

Canonical Allele Identifier: PA304399

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181706

RCV001206976

RCV002408788

ClinVar Variation:

200199

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2611Tyr	CA017404 NM_000138.5:c.7832G>A