Allele Registry

Canonical Allele Identifier: PA658825929

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000663659

RCV000706570

ClinVar Variation:

549180

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1217Asp	CA392324483 NM_000138.5:c.3650G>A