Allele Registry

Canonical Allele Identifier: PA645404079

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000464135

ClinVar Variation:

406345

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly509Cys	CA16614676 NM_000138.5:c.1525G>T