Allele Registry

Canonical Allele Identifier: PA320497

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000196087

RCV000810864

ClinVar Variation:

213366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gln2648Lys	CA320496 NM_001999.4:c.7942C>A