Allele Registry

Canonical Allele Identifier: PA319797

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000541423

RCV001705106

RCV002372169

ClinVar Variation:

213377

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Asp2892Tyr	CA319796 NM_001999.4:c.8674G>T