Allele Registry

Canonical Allele Identifier: PA304062

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197766

ClinVar RCV:

RCV000181458

RCV003765115

ClinVar Variation:

199994

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu768Ala	CA012946 NM_000138.5:c.2303A>C