Allele Registry

Canonical Allele Identifier: PA658661127

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000548249

RCV000769633

RCV002490964

ClinVar Variation:

457240

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2017Arg	CA392338617 NM_000138.5:c.6049T>C