Allele Registry

Canonical Allele Identifier: PA645464865

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000404981

RCV003144239

ClinVar Variation:

350775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly1251Glu	CA3395141 NM_001999.4:c.3752G>A