Allele Registry

Canonical Allele Identifier: PA295477

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000150704

RCV000524497

RCV000767974

RCV001526942

RCV001556720

RCV001798467

ClinVar Variation:

163480

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg627Cys	CA012647 NM_000138.5:c.1879C>T