Canonical Allele Identifier: CA2740098133
Gene: MT-CO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6189dup , J01415.2:m.6189dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.286dup ENSP00000354499.2:p.Arg96ProfsTer?