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
ENSP00000440294.2:p.Gln287His	CA392320001 ENST00000537463.6:c.861G>T CA392320002 ENST00000537463.6:c.861G>C