Allele Registry

Canonical Allele Identifier: PA645464856

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000462832

RCV001770358

RCV002313179

ClinVar Variation:

411823

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg1237Leu	CA3395166 NM_001999.4:c.3710G>T