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Canonical Allele Identifier: Get Identifier
Gene: COQ8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355740.1:p.[Glu461_Tyr462delinsAsnMetThr;Arg464Pro;Phe466Pro;Asp468_Asp481delinsSerThrPheArgSerSerGlyLeuLeuProThrGlyThrGly;Glu483_Val485delinsLeuCysGly;Ala487_Ile490delinsAsnPro]
CA1425530
ENST00000366778.5:c.1381del