Canonical Allele Identifier: CA2573105004
Gene: MT-ATP8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8495del , J01415.2:m.8495del GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.130del ENSP00000355265.1:p.Ile44Ter
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