Allele Registry

Canonical Allele Identifier: PA2499228760

Gene: FBN1 HGNC NCBI

ClinVar Allele:

1161158

ClinVar RCV:

RCV001524894

ClinVar Variation:

1171646

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1644Gly	CA392351073 NM_000138.5:c.4930C>G