Allele Registry

Canonical Allele Identifier: PA658660276

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000520060

ClinVar Variation:

450846

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro175Ser	CA270049424 NM_000138.5:c.523C>T