Allele Registry

Canonical Allele Identifier: PA645510427

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000507032

RCV001176834

RCV001857268

RCV002481638

RCV004003558

RCV004535641

ClinVar Variation:

439715

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg743His	CA047216 NM_000138.5:c.2228G>A