Allele Registry

Canonical Allele Identifier: PA281817

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000029752

RCV003764642

ClinVar Variation:

36090

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1851Ser	CA015886 NM_000138.5:c.5552A>G