Canonical Allele Identifier: CA2573105022
Gene: MT-ATP6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8688_8778del , J01415.2:m.8688_8778del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.162_252del ENSP00000354632.2:p.Lys55SerfsTer16
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