Allele Registry

Canonical Allele Identifier: PA282235

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035216

RCV002513353

ClinVar Variation:

42375

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1648Asn	CA015500 NM_000138.5:c.4942G>A