Allele Registry

Canonical Allele Identifier: PA915959240

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000788278

ClinVar Variation:

636447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys513Tyr	CA392342365 NM_000138.5:c.1538G>A