Allele Registry

Canonical Allele Identifier: PA210739

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017916

RCV002433459

ClinVar Variation:

16453

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly985Glu	CA013595 NM_000138.5:c.2954G>A