Allele Registry

Canonical Allele Identifier: PA2573162291

Gene: FBN1 HGNC NCBI

ClinVar Allele:

1315711

ClinVar RCV:

RCV002246067

ClinVar Variation:

1325455

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2509Ser	CA392325922 NM_000138.5:c.7526G>C CA392325925 NM_000138.5:c.7525T>A