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: ELANE HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000466090.1:p.Val98Leu	ENST00000590230.5:c.292G>C ENST00000590230.5:c.292G>T ENST00000590230.5:c.292G>T