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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000466090.1:p.Asp230Glu
CA402919166
ENST00000590230.5:c.690T>A
CA402919168
ENST00000590230.5:c.690T>G