Allele Registry

Canonical Allele Identifier: PA658812748

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV001220794

RCV002313315

ClinVar Variation:

519834

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1240Tyr	CA360758191 NM_001999.4:c.3719G>A