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.Ser1499Arg	CA392353674 ENST00000316623.9:c.4497T>G CA392353676 ENST00000316623.9:c.4497T>A CA392353698 ENST00000316623.9:c.4495A>C