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
NP_000129.3:p.Glu994Asp	CA392329259 NM_000138.5:c.2982G>T CA392329261 NM_000138.5:c.2982G>C