Allele Registry

Canonical Allele Identifier: PA2825057863

Gene: FBN1 HGNC NCBI

ClinVar Allele:

2934101

ClinVar RCV:

RCV003528050

ClinVar Variation:

2773368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile971Leu	CA392329835 NM_000138.5:c.2911A>C