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.Glu2330Asp	CA392330426 NM_000138.5:c.6990G>T CA392330428 NM_000138.5:c.6990G>C