Allele Registry

Canonical Allele Identifier: PA645464488

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV002310859

RCV002518699

ClinVar Variation:

263836

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys175Arg	CA10587619 NM_001999.4:c.523T>C