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.Lys2010Asn	CA392339505 NM_000138.5:c.6030G>T CA392339507 NM_000138.5:c.6030G>C