Allele Registry

Canonical Allele Identifier: PA658690665

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 492826

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys750Arg	CA392335678 NM_000138.5:c.2248T>C