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: ELAC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159434.1:p.Arg742Ser
CA398222258
NM_001165962.2:c.2226G>T
CA398222259
NM_001165962.2:c.2226G>C