Allele Registry

Canonical Allele Identifier: PA282179

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035144

RCV000697797

RCV001171254

RCV002426546

ClinVar Variation:

42310

915815

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys830Ser	CA013145 NM_000138.5:c.2489G>C CA392334450 NM_000138.5:c.2488T>A