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.Asn1250Lys	CA360758104 ENST00000508053.5:c.3750C>G CA360758105 ENST00000508053.5:c.3750C>A