Allele Registry

Canonical Allele Identifier: PA2499228824

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001381228

ClinVar Variation:

1069382

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2265Ser	CA392332488 NM_000138.5:c.6794G>C CA392332507 NM_000138.5:c.6793T>A