Allele Registry

Canonical Allele Identifier: PA342700

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 29701

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr1700Cys	CA015638 NM_000138.5:c.5099A>G