Allele Registry

Canonical Allele Identifier: PA281803

Gene: FBN1 HGNC NCBI

ClinVar Allele:

44741

ClinVar RCV:

RCV000029739

ClinVar Variation:

36077

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ser152Cys	CA015186 NM_000138.5:c.454A>T