Allele Registry

Canonical Allele Identifier: PA645406481

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000498555

RCV002272263

ClinVar Variation:

432086

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2674Tyr	CA392322605 NM_000138.5:c.8021G>A