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: FBN2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000424571.1:p.His500Gln	CA360747972 ENST00000508053.5:c.1500T>G CA360747974 ENST00000508053.5:c.1500T>A