Allele Registry

Canonical Allele Identifier: PA324331

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199772

RCV002277523

RCV003640871

ClinVar Variation:

213300

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Thr1050Met	CA324330 NM_001999.4:c.3149C>T