Allele Registry

Canonical Allele Identifier: PA304332

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000181644

RCV000243821

RCV001190247

RCV001852286

RCV002252025

RCV002259318

RCV003991468

RCV004537526

ClinVar Variation:

200142

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg96Thr	CA013493 NM_000138.5:c.287G>C