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.Ser1349Arg	CA392320482 ENST00000316623.9:c.4047C>G CA392320483 ENST00000316623.9:c.4047C>A CA392320489 ENST00000316623.9:c.4045A>C