Allele Registry

Canonical Allele Identifier: PA645403799

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000415236

RCV001389968

RCV002250623

RCV003993950

ClinVar Variation:

374203

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys160Arg	CA16043496 NM_000138.5:c.478T>C