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
ENSP00000379291.1:p.[Pro742_Pro746delinsArgGlnAlaAspSer;Leu748_Val771delinsThrGluSerProValCysTrpArgHisArgGlyAspGlyGlyAlaGlnGlyGluAlaGlyAlaAlaAlaGly]
CA2840256621
ENST00000395962.6:c.2224_2225insG