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
ENSP00000453958.2:p.Asp1267Glu	CA392323745 ENST00000559133.6:c.3801T>G CA392323749 ENST00000559133.6:c.3801T>A