Allele Registry

Canonical Allele Identifier: PA913191819

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 626882

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1361Arg	CA392320410 NM_000138.5:c.4081T>C