Allele Registry

Canonical Allele Identifier: PA658812896

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV001053182

RCV001572264

RCV002313341

ClinVar Variation:

519860

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg2362Thr	CA3394224 NM_001999.4:c.7085G>C