Allele Registry

Canonical Allele Identifier: PA658826012

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000659557

RCV002352071

ClinVar Variation:

547333

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1930Asn	CA392341002 NM_000138.5:c.5788G>A