Allele Registry

Canonical Allele Identifier: PA323713

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000199182

RCV000459579

ClinVar Variation:

213379

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg245Trp	CA323712 NM_001999.4:c.733C>T