Allele Registry

Canonical Allele Identifier: PA353665

Gene: FBN1 HGNC NCBI

ClinVar Allele:

224488

ClinVar RCV:

RCV000208376

RCV002515543

RCV003144160

ClinVar Variation:

222610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2274Arg	CA353663 NM_000138.5:c.6820T>C