Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: FBN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000501333.1:p.Glu530Asp	CA392334733 ENST00000674301.1:c.1590G>T CA392334734 ENST00000674301.1:c.1590G>C