Allele Registry

Canonical Allele Identifier: PA645405527

Gene: FBN1 HGNC NCBI

ClinVar Allele:

400660

ClinVar RCV:

RCV001377303

ClinVar Variation:

406342

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1736Tyr	CA16614644 NM_000138.5:c.5207G>A