Allele Registry

Canonical Allele Identifier: PA645406096

Gene: FBN1 HGNC NCBI

ClinVar Allele:

360974

ClinVar RCV:

RCV000414920

ClinVar Variation:

373981

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2267Ile	CA16043492 NM_000138.5:c.6800A>T