Allele Registry

Canonical Allele Identifier: PA658800933

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002313272

RCV002531821

ClinVar Variation:

519787

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2468Tyr	CA392327788 NM_000138.5:c.7403G>A