Allele Registry

Canonical Allele Identifier: PA658690297

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000586374

RCV000808687

ClinVar Variation:

495557

653004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys504Ser	CA392342609 NM_000138.5:c.1511G>C CA392342618 NM_000138.5:c.1510T>A