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
ENSP00000325527.5:p.Glu994Asp	CA392329259 ENST00000316623.9:c.2982G>T CA392329261 ENST00000316623.9:c.2982G>C