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
NP_001136027.1:p.Ser503_Ter504insSerGlnProProTrpGlyIleGlnSerProGluGlnAlaValProCysCysSerAlaSerTyrProPheProValCysProGlySerGluGluProProTrpAlaSerGlnSerCysLeuAlaLeuLeuLeuGlyProGlyAlaGlnAspProTrpGlyTrpGlyThrProAsnPheValPro
CA405957231
NM_001142555.3:c.1511G>C