Allele Registry

Canonical Allele Identifier: PA658812593

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000704167

RCV002269291

RCV002313294

ClinVar Variation:

519813

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly721Arg	CA3395621 NM_001999.4:c.2161G>C