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
ENSP00000337445.4:p.[Arg824delinsSerProValLysIleTrpGluThrLeuAsnSerGluGlyCysValSerSer;Gln826delinsProArgThrHisProTyrLeuProSerLeuLeuVal]
CA2580612852
ENST00000338034.9:c.2472_2473del