Canonical Allele Identifier: CA2740098130
Gene: MT-ATP8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8441_8442del , J01415.2:m.8441_8442del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.76_77del ENSP00000355265.1:p.Leu26LysfsTer22
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