Allele Registry

Canonical Allele Identifier: PA322316

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000197851

RCV001207170

RCV002310782

ClinVar Variation:

213280

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Asn629Asp	CA322315 NM_001999.4:c.1885A>G