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: EIF2B4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000479991.1:p.[Thr227_Ala228insLeuValAsnLysLeuLysProTyrMetSerPheLeuThrGlnCysArgProLeuSer;Ala228_Ter229insSerMetHisAsnAlaIleLysPheLeuAsn]
CA645539330
ENST00000622434.4:c.682_*19del