Allele Registry

Canonical Allele Identifier: PA658800499

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632015

RCV002307566

RCV002483786

RCV003528215

RCV004003819

ClinVar Variation:

527209

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Leu535Ile	CA392341345 NM_000138.5:c.1603T>A