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_060597.4:p.[Leu770_Arg782delinsValCysTrpArgHisArgGlyAspGlyGlyAlaGlnGly;Lys784_Leu799delinsAlaGlyAlaAlaAlaGlyAlaGlyGlyProProValGlnGlyAlaGly]
CA8400837
NM_018127.7:c.2308_2309del