Allele Registry

Canonical Allele Identifier: PA658800794

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000623517

RCV000659555

RCV002343175

ClinVar Variation:

520499

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1876Arg	CA392341877 NM_000138.5:c.5626T>C