Allele Registry

Canonical Allele Identifier: PA295233

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000148498

RCV001177402

RCV001209766

RCV001588997

RCV002478411

ClinVar Variation:

161242

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ala686Thr	CA012746 NM_000138.5:c.2056G>A