Allele Registry

Canonical Allele Identifier: PA304188

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181543

RCV000468318

RCV000587722

RCV000663784

RCV002314682

ClinVar Variation:

200063

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu1811Lys	CA015799 NM_000138.5:c.5431G>A