Allele Registry

Canonical Allele Identifier: PA658800471

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000772653

RCV001002368

RCV001868121

RCV003322795

ClinVar Variation:

519712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg439Gln	CA044257 NM_000138.5:c.1316G>A