Allele Registry

Canonical Allele Identifier: PA658691120

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589015

ClinVar Variation:

495583

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys980Phe	CA392329615 NM_000138.5:c.2939G>T