Allele Registry

Canonical Allele Identifier: PA658800531

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632010

ClinVar Variation:

527206

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys639Arg	CA392339045 NM_000138.5:c.1915T>C