Allele Registry

Canonical Allele Identifier: PA658690345

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000587875

RCV001045370

RCV001975073

ClinVar Variation:

495558

1458827

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly544Arg	CA392341227 NM_000138.5:c.1630G>C CA392341228 NM_000138.5:c.1630G>A