Allele Registry

Canonical Allele Identifier: PA281678

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017913

ClinVar Variation:

16450

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1265Arg	CA014552 NM_000138.5:c.3793T>C