Allele Registry

Canonical Allele Identifier: PA645405897

Gene: FBN1 HGNC NCBI

ClinVar Allele:

422024

ClinVar RCV:

RCV000492855

RCV001064950

RCV001334258

ClinVar Variation:

429578

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2111Tyr	CA392336833 NM_000138.5:c.6332G>A