Allele Registry

Canonical Allele Identifier: PA645464745

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000688887

RCV001561136

RCV002310935

ClinVar Variation:

263966

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg993His	CA3395382 NM_001999.4:c.2978G>A