Allele Registry

Canonical Allele Identifier: PA323569

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199025

RCV001853149

ClinVar Variation:

213393

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys907Arg	CA323568 NM_001999.4:c.2719T>C