Allele Registry

Canonical Allele Identifier: PA645404143

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 420087

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly560Ser	CA16619973 NM_000138.5:c.1678G>A