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
ENSP00000501333.2:p.Thr1383Ser	CA392320227 ENST00000674301.2:c.4148C>G CA392320232 ENST00000674301.2:c.4147A>T