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
ENSP00000501333.2:p.Glu992Asp	CA392329314 ENST00000674301.2:c.2976A>T CA392329319 ENST00000674301.2:c.2976A>C