Allele Registry

Canonical Allele Identifier: PA320613

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000196187

RCV001857718

ClinVar Variation:

213389

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly475Arg	CA320612 NM_001999.4:c.1423G>C