Allele Registry

Canonical Allele Identifier: PA2573163439

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002036675

RCV002352775

ClinVar Variation:

1525423

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2070Tyr	CA392337145 NM_000138.5:c.6209G>A