Allele Registry

Canonical Allele Identifier: PA281660

Gene: FBN1 HGNC NCBI

ClinVar Allele:

31467

ClinVar RCV:

RCV000017890

RCV003764581

ClinVar Variation:

16428

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1117Tyr	CA013991 NM_000138.5:c.3350G>A