Allele Registry

Canonical Allele Identifier: PA658690280

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589487

RCV003767325

ClinVar Variation:

495555

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys474Gly	CA392343762 NM_000138.5:c.1420T>G