Allele Registry

Canonical Allele Identifier: PA324006

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199463

RCV002515358

RCV003390934

ClinVar Variation:

213317

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Thr1234Met	CA324005 NM_001999.4:c.3701C>T