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: COQ8B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471310.2:p.Ser518_Ter519insSerGlnProProTrpGlyIleGlnSerProGluGlnAlaValProCysCysSerAlaSerTyrProPheProValCysProGlySerGluGluProProTrpAlaSerGlnSerCysLeuAlaLeuLeuLeuGlyProGlyAlaGlnAspProTrpGlyTrpGlyThrProAsnPheValPro
CA405957231
ENST00000594490.6:c.1556G>C