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.Glu1216Asp	CA392324490 NM_000138.5:c.3648A>T CA392324492 NM_000138.5:c.3648A>C