Allele Registry

Canonical Allele Identifier: PA645510453

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000506228

RCV001384078

RCV001613330

ClinVar Variation:

439719

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1928Tyr	CA392341016 NM_000138.5:c.5783G>A