Allele Registry

Canonical Allele Identifier: PA322306

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000197843

RCV000469864

RCV000487809

RCV000581293

RCV002277536

RCV002277537

RCV002310791

ClinVar Variation:

213423

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ile2316Phe	CA322305 NM_001999.4:c.6946A>T