Allele Registry

Canonical Allele Identifier: PA281674

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017906

RCV000242083

ClinVar Variation:

16444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1223Tyr	CA014399 NM_000138.5:c.3668G>A