Allele Registry

Canonical Allele Identifier: PA645405299

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000468089

RCV000480333

ClinVar Variation:

406346

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1511Tyr	CA16614510 NM_000138.5:c.4532G>A