Allele Registry

Canonical Allele Identifier: PA645405851

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000497640

RCV000663849

RCV003485593

RCV003766792

ClinVar Variation:

431924

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2038Tyr	CA269530715 NM_000138.5:c.6113G>A