Allele Registry

Canonical Allele Identifier: PA304216

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181562

RCV002368664

RCV003227467

ClinVar Variation:

200079

1752559

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Trp2092Arg	CA016311 NM_000138.5:c.6274T>C CA392336973 NM_000138.5:c.6274T>A