Allele Registry

Canonical Allele Identifier: PA304082

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181469

RCV000208533

RCV001192095

RCV001205432

RCV001797666

ClinVar Variation:

200005

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg954His	CA013484 NM_000138.5:c.2861G>A