Allele Registry

Canonical Allele Identifier: PA658800780

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632006

RCV002463364

RCV003226342

ClinVar Variation:

527203

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1806Phe	CA392345808 NM_000138.5:c.5417G>T