Allele Registry

Canonical Allele Identifier: PA658825769

Gene: FBN1 HGNC NCBI

ClinVar Allele:

552461

ClinVar RCV:

RCV000680523

RCV001187334

RCV001868302

RCV003313131

ClinVar Variation:

561296

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg215Gly	CA056783 NM_000138.5:c.643C>G