Allele Registry

Canonical Allele Identifier: PA658660979

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000530866

ClinVar Variation:

457221

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1564Tyr	CA16609286 NM_000138.5:c.4691G>A