Allele Registry

Canonical Allele Identifier: PA281662

Gene: FBN1 HGNC NCBI

ClinVar Allele:

31468

ClinVar RCV:

RCV000017891

RCV000812017

ClinVar Variation:

16429

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1242Tyr	CA014498 NM_000138.5:c.3725G>A