Allele Registry

Canonical Allele Identifier: PA658691607

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 495599

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1236Tyr	CA392324303 NM_000138.5:c.3707G>A