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Canonical Allele Identifier: Get Identifier
Gene: COQ8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355741.1:p.[Glu513_Tyr514delinsAsnMetThr;Arg516Pro;Phe518Pro;Asp520_Asp533delinsSerThrPheArgSerSerGlyLeuLeuProThrGlyThrGly;Glu535_Val537delinsLeuCysGly;Ala539_Ile542delinsAsnPro]
CA1425530
ENST00000366779.5:c.1537del