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.Phe2804Leu	CA017739 ENST00000316623.9:c.8412T>G CA392319143 ENST00000316623.9:c.8412T>A CA392319153 ENST00000316623.9:c.8410T>C