Allele Registry

Canonical Allele Identifier: PA322241

Gene: FBN2 HGNC NCBI

ClinVar Allele:

209761

ClinVar RCV:

RCV000726254

RCV001078545

RCV003323443

RCV003955183

ClinVar Variation:

213319

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1237His	CA322240 NM_001999.4:c.3710G>A