Allele Registry

Canonical Allele Identifier: PA321137

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000196714

RCV002517177

RCV004020359

ClinVar Variation:

213347

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly2180Asp	CA321136 NM_001999.4:c.6539G>A