Allele Registry

Canonical Allele Identifier: PA658660426

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000530267

ClinVar Variation:

457168

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys661Trp	CA392338780 NM_000138.5:c.1983C>G