Allele Registry

Canonical Allele Identifier: PA322826

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000198329

RCV001265725

RCV001318629

ClinVar Variation:

213308

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ser1148Gly	CA322825 NM_001999.4:c.3442A>G