Canonical Allele Identifier: CA2573104824
Gene: MT-CO1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6182_6185del , J01415.2:m.6182_6185del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.279_282del ENSP00000354499.2:p.Phe94ProfsTer3
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