ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499565748
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8570T= , J01415.2:m.8570T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.205T=
(MT-ATP8)
ENSP00000355265.1:p.Ter69=
ENST00000361899.2:c.44T=
(MT-ATP6)
ENSP00000354632.2:p.Leu15=
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