Allele Registry

Canonical Allele Identifier: PA658660256

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000529377

RCV000663691

ClinVar Variation:

457203

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys136Gly	CA392446510 NM_000138.5:c.406T>G