Allele Registry

Canonical Allele Identifier: PA658800666

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000781366

RCV001179399

RCV001879028

RCV002483751

RCV002532845

RCV003147524

ClinVar Variation:

521833

1371510

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1353Arg	CA392320463 NM_000138.5:c.4057G>C CA392320464 NM_000138.5:c.4057G>A