Allele Registry

Canonical Allele Identifier: PA645404082

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000468015

RCV000587764

RCV003401461

ClinVar Variation:

406288

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys513Phe	CA16614674 NM_000138.5:c.1538G>T