Allele Registry

Canonical Allele Identifier: PA149710

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000029780

RCV000083258

RCV000539171

RCV000788741

RCV001374808

RCV002399340

RCV003492302

RCV004532416

ClinVar Variation:

36118

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2576Cys	CA017349 NM_000138.5:c.7726C>T