Allele Registry

Canonical Allele Identifier: PA2825058963

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002574559

ClinVar Variation:

2173266

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe1789Ile	CA392346057 NM_000138.5:c.5365T>A