Allele Registry

Canonical Allele Identifier: PA658825840

Gene: FBN1 HGNC NCBI

ClinVar Allele:

539853

ClinVar RCV:

RCV000663504

RCV000816775

RCV001374798

ClinVar Variation:

549054

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys617Arg	CA392339187 NM_000138.5:c.1849T>C