Allele Registry

Canonical Allele Identifier: PA658825891

Gene: FBN1 HGNC NCBI

ClinVar Allele:

539784

ClinVar RCV:

RCV000663608

ClinVar Variation:

549136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1055Trp	CA392328012 NM_000138.5:c.3165T>G