Allele Registry

Canonical Allele Identifier: PA891845269

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000705946

RCV001374801

ClinVar Variation:

581985

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys513Ser	CA392342362 NM_000138.5:c.1538G>C CA392342387 NM_000138.5:c.1537T>A