Allele Registry

Canonical Allele Identifier: PA658691607

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589739

RCV001064638

RCV003476881

ClinVar Variation:

495599

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1236Tyr	CA392324303 NM_000138.5:c.3707G>A