Allele Registry

Canonical Allele Identifier: PA281850

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000029778

RCV000484503

RCV001212859

RCV002313721

RCV004528138

ClinVar Variation:

36116

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe2556Val	CA017323 NM_000138.5:c.7666T>G