Allele Registry

Canonical Allele Identifier: PA320226

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000195847

RCV001853147

ClinVar Variation:

213357

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Thr2444Ile	CA320225 NM_001999.4:c.7331C>T