Allele Registry

Canonical Allele Identifier: PA658661393

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000522194

RCV002413405

RCV003766945

ClinVar Variation:

449756

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2627Glu	CA392323342 NM_000138.5:c.7880G>A