Allele Registry

Canonical Allele Identifier: PA645406311

Gene: FBN1 HGNC NCBI

ClinVar Allele:

415425

ClinVar RCV:

RCV000489574

RCV000791340

RCV001217017

RCV002314846

ClinVar Variation:

427179

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2468Arg	CA392327790 NM_000138.5:c.7402T>C