Allele Registry

Canonical Allele Identifier: PA304320

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181637

RCV001178820

RCV001362745

RCV002485196

RCV003996701

ClinVar Variation:

200136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys2851Glu	CA017816 NM_000138.5:c.8551A>G