Allele Registry

Canonical Allele Identifier: PA281789

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000029715

ClinVar Variation:

36055

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys89Ser	CA013283 NM_000138.5:c.266G>C CA392447121 NM_000138.5:c.265T>A