Canonical Allele Identifier: CA2573105001
Gene: MT-ATP8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8457_8458del , J01415.2:m.8457_8458del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.92_93del ENSP00000355265.1:p.Thr31LysfsTer17
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