Allele Registry

Canonical Allele Identifier: PA645465106

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000475730

RCV002310888

ClinVar Variation:

263894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg2473Gln	CA3394128 NM_001999.4:c.7418G>A