Allele Registry

Canonical Allele Identifier: PA658691407

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000584722

RCV000586423

ClinVar Variation:

492828

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1171Trp	CA392325180 NM_000138.5:c.3513C>G