Allele Registry

Canonical Allele Identifier: PA325397

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000200812

RCV000291146

RCV002277533

ClinVar Variation:

213388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg394His	CA325396 NM_001999.4:c.1181G>A