Allele Registry

Canonical Allele Identifier: PA1139675723

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 919776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1850Cys	CA055227 NM_000138.5:c.5548C>T