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: ELN HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001075221.1:p.Cys667Ser
CA367891977
NM_001081752.3:c.1999T>A
CA367891982
NM_001081752.3:c.2000G>C