Allele Registry

Canonical Allele Identifier: PA176114

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000150698

RCV002514897

ClinVar Variation:

163467

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2170Tyr	CA016539 NM_000138.5:c.6509G>A